15q11.2CNV Type: Deletion-Duplication
Largest CNV size: 2150678 bp
Statistics Box:
Number of Reports: 124
Number of Reports: 124
Summary Information
CNVs that reside solely within the 15q11.2 locus have been identified in autistic individuals in numerous reports. NDN, which is thought to be involved in the regulation of neuronal growth, and CYFIP1, which interacts with FMR1, are among the genes that typically reside witihin CNVs at this locus.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion
Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplica...
Duplication
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
Deletion-Duplication
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural di...
Deletion
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
Deletion
A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
De novo rates and selection of large copy number variation.
Duplication
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion-Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Deletion
15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism.
Deletion
15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features.
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
Deletion
High rate of disease-related copy number variations in childhood onset schizophrenia.
Deletion
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion-Duplication
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phe...
Duplication
15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Deletion-Duplication
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion-Duplication
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
Deletion
Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weight.
Deletion
High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.
Deletion
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion-Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Deletion
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Deletion
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Duplication
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.
Duplication
Contribution of SHANK3 mutations to autism spectrum disorder.
Duplication
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion-Duplication
Clinical genetic testing for patients with autism spectrum disorders.
Deletion-Duplication
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
Deletion-Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Deletion-Duplication
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.
Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
Analysis of copy number variations in brain DNA from patients with schizophrenia and other psychiatric disorders.
Duplication
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.
Duplication
Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?
Deletion-Duplication
Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion-Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.
Duplication
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion-Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
Comprehensive molecular testing in patients with high functioning autism spectrum disorder.
Duplication
Frequency and Complexity of De Novo Structural Mutation in Autism.
Deletion
Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion-Duplication
Copy Number Variations independently induce Autism Spectrum Disorder.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion-Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Duplication
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Deletion
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Deletion-Duplication
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs
Deletion
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center
Deletion
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
Deletion-Duplication
Diagnostic findings and yield of investigations for children with developmental regression
Deletion
The genetic landscape of autism spectrum disorder in the Middle Eastern population
Duplication
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Deletion
Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD
Deletion-Duplication
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
Duplication
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
abdelmoity_12_DD/ID_discovery_cases
Consecutive patients who underwent microarray study at Children's Mercy Hospitals and Clinics (Kansas City, MO) from April 2008 to July 2010.
1654
Patients evaluated for one of the following: developmental delay or intellectual disability, neurological and/or neuropsychiatric disorders, dysmorphism, microcephaly, or multiple congenital anomalies.
NA
NA
350000
21
12
33
ahn_13_SCZ_discovery_cases
Probands with childhood onset schizophrenia screened for 46 well-documented neurodevelopmental risk CNVs
126
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years); medical or neurological disorders, or IQ under 70, were exclusionary criteria.
N/A
N/A
1386000
2
0
2
akkus_24_ASD/DD/ID_discovery_cases
Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
1227
Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
57.13% Male
883874
1
3
4
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
311106
1
0
1
akter_24_ASD/ADHD/DD/ID_discovery_cases
Individuals clinically diagnosed with one or more neurodevelopmental disorders (NDDs) by neurologists from July 2019 to December 2022 from multiple tertiary hospitals across Bangladesh.
576
Cases presented with one or more neurodevelopmental disorders; specific diagnoses of ASD, ADHD, and intellectual disability were made by clinical specialists and complemented by formal assessments, such as ADOS-2 and DSM-5, where appropriate.
98.26% under 18 years of age
67.71% Male
137504
0
1
1
alayadhi_16_ASD_discovery_cases
ASD cases from 11 multiplex families referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH)
22
All ASD cases met crtieria for autism on one or both diagnostic measures (ADI-R and ADOS), autism severity assessed using CARS-2
N/A
100% Male
56952
2
0
2
alvarez-mora_16_ASD_discovery_cases
Unrelated ASD male patients from Spain
50
All cases fulfilled DSM-5 criteria for ASD; diagnosis confirmed with ADI-R; most cases presented with high-functioning ASD without facial dysmorphic features
10.85 8.02 yrs.
Male
1330000
0
2
2
al_ageeli_13_ASD/DD/ID/EP_discovery_cases
Unrelated patients with duplications within the 15q11-q13 region, seen in the genetic department of Robert DEBRE hospital (France) between 2000 and 2012
30
Most common features of this cohort: developmental delay (77%), speech delay (93%), learning disabilities (93%), behavioral disturbances (77%), autism/ASD (74%), epilepsy/seizures (40%), and minor facial dysmorphic features (40%).
Range, 4 mos.-30 yrs. (mean 8.8; median 7)
66.67% Male
N/A
0
6
6
al_sarraj_24_ASD_discovery_cases
ASD probands from 102 families (91 simplex, 11 multiplex) recruited from the Shafallah Center for Children with Special Needs (Doha, Qatar).
113
Cases were diagnosed with ASD according to DSM-5 criteria.
Mean age, 8.86 +/- 10.5 yrs.
Male/Female Ratio 3.64:1.
613338
0
1
1
annunziata_21_ASD_discovery_cases
Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
209
Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
80.86% Male
614264
1
1
2
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
582491
0
1
1
bartnik_12_EP_discovery_cases
102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders
102
Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.
NA
NA
220000
1
0
1
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
300000
0
1
1
brandler_16_ASD_discovery_cases
ASD probands primarily referred from clinical departments at Rady's Childrens Hospital (including the Autism Discovery Institute, the Departments of Psychiatry, Neurology, and Speech and Occupational Therapy, and the Developmental Evaluation Clinic); further referrals through project website or the Autism Center of Excellence at the University of California, San Diego (11 trios)
71
Cases had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician.
N/A
N/A
N/A
2
0
2
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
635100
1
0
1
bucan_09_ASD_discovery_cases
Individuals from 912 multiplex families (AGRE cohort)
3832
ASD
591007
26
0
26
bucan_09_ASD_replication_cases
Unrelated ASD patients (ACC cohort). 54% simplex, 46% multiplex
859
828 diagnosed with autism, 31 with other ASDs
Range, 2-21
81.8% Male
926360
2
0
2
cai_08_ASD_discovery_cases
Unrelated individuals with autism or ASD recruited by SARC and/or AGRE
279
270 cases diagnosed with autism, 2 with Asperger's, 1 with PDD-NOS, 3 with not quite autism (NQA), 3 with broad spectrum autism
Mean 7.94 yrs
79.6% Male
120000
0
2
2
castronovo_14_ASD/DD/EP_discovery_cases
Third-born child of healthy, non-consanguineous parents with two healthy older brothers presenting with a complex de novo chromosomal rearrangement at 15q11-q13
1
Case diagnosed with autism (formal evaluation using ADOS), severe developmental delay, and epilepsy (successfully treated with Depakine)
3 yrs. 9 mos.
Male
1100000
0
1
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
2150678
3
0
3
celestino-soper_12_DD/CHD_discovery_cases
Subjects from databases of Baylor College of Medicine-Medical Genetics Laboratories (MGL) and Signature Genomic Laboratories (SGL) diagnostic laboratories
5
Four patients with developmental delay (DD), one with congenital heart defects (CHD)
Range, 1 mo.-17 yrs.
60.0% Male
2700000
0
1
1
ceylan_18_DD/ID_discovery_cases
Patients examined at the department of genetics between May 2016 and April 2017
124
Global developmental delay/intellectual disability (DD/ID) and/or congenital anomalies
Range, 15 days-17 years
58.87% Male
500000
1
0
1
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
512351
2
0
2
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
507015
1
0
1
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
2644294
0
1
1
chung_11_ASD_discovery_cases
Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
1
ASD (ADI-R and ADOS, Module 3)
12
Female
1388844
1
1
2
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
443274
2
3
5
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
1896864
7
5
12
depienne_09_ASD_discovery_cases
Patients from 430 families (95 mulitplex, 335 sporadic) recruited by Paris Autism Research international Subpair (PARIS) at centers in Europe and U.S.
522
472 cases diagnosed with autism, 26 with Asperger syndrome, & 24 for PDD-NOS. 358 cases with mental retardation, 261 with limited or no language, 66 with history of epilepsy.
Mean of 11 7.5 yrs (range 2.5-43)
75.3% Male
254000
3
2
5
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
395426
1
0
1
doornbos_09_15q11.2_discovery_cases
Patients in two genetic centres (University Medical Centre Groningen & Leiden University Medical Centre, Netherlands)
1576
Patients originally referred for mental retardation and/or multiple congenital abnormalities; all patients with 15q11.2 microdeletion were clinically re-evaluated.
340000
9
0
9
du_21_ASD/DD/ID/EP_discovery_cases
Individuals who had a Neurodevelopmental Reflex (NDR) panel ordered through Cincinnati Children's Hospital Medical Center (CCHMC) from January 2018 to April 2019.
511
Common clinical indications for patients in this cohort included autism spectrum disorder (ASD), developmental delay(DD), speech delay, intellectual disability (ID), gross motor delay, mixed receptive-expressive language disorder, epilepsy (EP), and/or dysmorphic features.
Range, 3 mos.-35 yrs. (median age, 3 yrs.)
73.6% Male
522402
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
312867
3
1
4
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
226406
4
2
6
fry_16_DD/ID/EP/ASD_discovery_cases
Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales
80
All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)
Range, <1 yr.-60 yrs.
45.0% Male
889000
0
1
1
furley_24_ASD/ID_discovery_cases
Chidren presenting with developmental regression referred to the General Genetics Department at Monash Health (Melbourne, Australia) between 2018 and 2021.
99
All 99 cases presented with developmental regression; 30 cases had been previously diagnosed with intellectual disability, 21 cases with autism spectrum disorder, and 39 cases with autism spectrum disorder and intellectual disability.
Range, 0-18 yrs.
69.70% Male
513841
2
0
2
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
22861
1
0
1
gannon_11_ASD/DD_discovery_cases
Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
187
Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
Mean age, ~44 mos.
~82% Male
NA
1
1
2
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
385003
15
468
483
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
290000
166
0
166
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
414379
24
249
273
gorker_18_ASD_discovery_cases
Individuals living in the Trakya region of Turkey with a pre-diagnosis of ASD who were referred to the Trakya University Child and Adolescent Psychiatry Department between January 2015-December 2015
53
All cases were diagnosed with ASD according to DSM-V and were further assessed using the Childhood Autism Rating Scales (CARS); 14 cases were comorbid with intellectual disability, 16 cases were comorbid with ADHD (assessed by the Conners Parent Rating Scale-Revised Short/CPRS-RS)
Mean age, 9.2 years
74.0% Male
246356
0
1
1
granata_25_ASD_discovery_cases
"Patients recruited from the Child Neuropsychiatry Unit and the Cytogenetics and Medical Genetics Unit of ""ASST Sette Laghi"", Varese, Italy."
122
Cases diagnosed with ASD based on DSM-5 criteria and presented without epilepsy, dysmorphic features, intellectual disability, microcephaly, six or more minor anomalies, or systemic congenital malformations.
Range, 3-12 yrs.
85.25% Male
15569
0
1
1
guo_18_ASD/DD/ID_discovery_cases
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
213
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
N/A
N/A
469199
2
0
2
guo_19_DD/ID_discovery_cases
Patients hospitalized at the Department of Pediatric Rehabilitation Medicine, Zhengzhou Children's Hospital, between April 2017 and March 2019 showing clinical signs of neurodevelopmental disorders
54
Cases presented with one or more neurodevelopmental disorders, with global developmental delay and intellectual disability being among the most frequently observed phenotypes in this cohort.
Median age, 15 (8-26) months
61.1% Male
500000
1
0
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
414337
0
1
1
husson_20_ASD_discovery_cases
A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
253
Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
N/A
81.4% Male
497087
4
0
4
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
161476
0
1
1
jiao_19_EP/DD/ID_discovery_cases
Consecutive pediatric patients with neurological disorders who visited Wuhan Children's Hospital between Jan 2017 and Dec 2018
220
Epilepsy/seizures were the most identified phenotype in this cohort (139/220, 63.2%), with developmental delay observed in 100 patients (45.45%), intellectual disability in 54 patients (24.5%), and autism/autistic behavior in 10 patients (4.5%).
Range, 1 mo.- 14 yrs.
60.45% Male
500000
1
0
1
kalsner_17_ASD_discovery_cases
Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program
100
All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
Range, 21 mos.-17 yrs.
76.0% Male
402000
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
973507
19
9
28
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
327151
5
1
6
koufaris_16_DD/ID_discovery_cases
Child with Prader-Willi syndrome-like symptoms born to non-consanguineous normal parents
1
Mild intellectual disability, neurodevelopmental delay, features of ADHD, disorders in motor control and perception, and obesity
N/A
Male
13000
1
0
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
2706266
3
1
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
579137
5
12
17
kucinska_24_ASD_discovery_cases
Patients referred from the Genetics Clinic and the Neurology Department of the Polish Mothers Memorial Hospital Research Institute from 20182021.
180
Cases diagnosed with ASD according to DSM-IV and DSM-5 criteria and assigned a disease code based on ICD-10 classification; a subset of cases also presented with motor and/or speech developmental delay, intellectual disability, and/or epilepsy.
Range, 2.4-17.9 yrs.
76.67% Male
450966
1
0
1
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
656405
3
0
3
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
782685
12
0
12
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
1770196
0
4
4
leblond_12_ASD_replication_cases
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
2
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
NA
100% Male
468034
1
0
1
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
489168
0
1
1
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
169000
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
696932
5
4
9
lintas_17_ASD_discovery_cases
ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
41
Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
N/A
87.80% Male
319468
0
1
1
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
319546
1
1
2
lob_24_ASD_discovery_cases
Patients with ASD whose electronic medical records (EMRs) were queried from April 1, 2015 through March 31, 2020 and who had at least one genetic testing result documented in their chart; study completed at the Children's Neurodevelopmental Center, Hasbro Children's Hospital, Providence, RI.
523
Cases diagnosed with ASD (ICD-10 code F.84), with the majority of diagnoses made using the ADOS-2 followed by CARS.
Range, 1-18 yrs.
76.67% Male
849734
3
2
5
madrigal_12_ASD_discovery_cases
Half-siblings born from the same mother presenting with intellectual disability, ASD, and dysmorphic features referred for genetic testing (CIBERER; Barcelona, Spain)
2
Diagnosis of ASD and intellectual disability
Range, 9-12 yrs.
50% Male
NA
2
0
2
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
562000
4
3
7
martucci_23_ASD_discovery_cases
Children with ASD recruited between February 2016 and August 2021 at the Child Neuropsychiatry Unit of Umberto I Hospital, Sapienza University
130
Cases clinically diagnosed with ASD according to DSM-5 criteria and supported by ADI and ADOS
Mean age, 3.4 yrs. (range, 2-6 yrs)
83.85% Male
513391
3
1
4
massier_24_ASD/ADHD/DD/ID_discovery_cases
Individuals from a French cohort of 27 families with a 3q29 duplication identified by CMA recruited from 14 French genetic centers from December 2018 to October 2022.
39
The most frequently observed neurodevelopmental phentoypes in this cohort were developmental delay, learning disability, intellectual disability, and behavioral disorders, including autism spectrum disorder and ADHD.
Range, fetus-adulthood
43.59% Male
443274
1
0
1
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
2443821
4
1
5
mitani_21_DD/ID_discovery_cases
Individuals from 234 newly enrolled (175 simplex families, 54 families with two affected, four families with three affected, and one family with four affected) Turkish families in the Turkish brain malformation/NDD cohort #2 (TBM2) cohort of Baylor-Hopkins Center for Mendelian Genomics (BHCMG) with a spectrum of neurodevelopmental disorder phenotypes.
299
Cases presented with brain malformations and/or neurodevelopmental disorders, with the most frequently observed NDDs being developmental delay (DD) and/or intellectual disability (ID).
NA
NA
427845
0
1
1
moessner_07_ASD_discovery_cases
Unrelated subjects recruited from Hospital for Sick Children, Toronto (225), and child diagnostic centers in Hamilton (100) and Newfoundland (75). 62% multiplex, 38% simplex. Possible sample overlap with Marshall et al., 2008 CNV report.
400
ASD
1660000
0
1
1
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
443000
2
0
2
moreira_14_ASD/EP_discovery_cases
ASD cases ascertained at the "Centro de Pesquisa sobre o Genoma Humano e Celulas Tronco" (CEGH-Cel), IB-USP, for CNVs affecting 15q13.3, 16p11.2, and 22q13.33 regions
531
ASD cases without (N=453) or with epilepsy (N=78). Diagnosis of ASD according to DSM-IV crtieria by psychiatrists from Institutio de Psiquiatria, Hospital das Clinicas-Universidade de Sao Paulo (IPq-USP); whenever possible, an interview based on ADI-R and CARS was applied. Diagnosis of epilepsy based on occurrence of at least two unprovoked seizure episodes occurring more than 24 hours apart.
N/A
N/A
812000
1
0
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
1633000
3
3
6
mosrati_12_ASD/MR_discovery_cases
Affected siblings from a consanguineous Tunisian family with moderate to profound congenital hearing loss associated with mental retardation and autistic behavior.
3
Congenital hearing loss (3/3), mental retardation (2/3), and autistic traits (2/3)
Range, 22-31 yrs.
66.67% Male
871523
1
0
1
nagamani_12_ASD/DD/ID_discovery_cases
DNA samples from patients with ASD, DD, or ID screened for CNVs involving the AUTS2 gene; 6 patients identified with AUTS2 CNVs (only 4 described in report)
6054
ASD, developmental delay (DD), or intellectual disability (ID).
NA
NA
NA
0
1
1
nakamine_08_ASD_discovery_cases
Autistic male proband ascertained during the course of a genetic study of autism in the Central Valley of Costa Rica
1
Diagnosis of autism based on meeting full criteria on ADI-R and ADOS module 2.
10 yrs. 3 mos.
Male
148000
0
1
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
300573
0
1
1
noor_15_DD/ADHD_discovery_cases
Proband from a four-generation family affected with learning difficulties and neuropsychiatric phenotypes
1
Global developmental delay, ADHD, and behavioral problems
10 yrs.
Female
129000
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
29543
1
0
1
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
413362
4
0
4
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
2450455
1
0
1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
240159
0
1
1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
919086
1
5
6
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
947838
3
4
7
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
2218563
8
2
10
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
107205
1
1
2
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
25668
1
0
1
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
517930
5
2
7
reinthaler_14_EP_discovery_cases
Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
281
Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
N/A
58.72% Male
500000
1
6
7
roberts_13_ASD/DD/ID_discovery_cases
Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
215
ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
65.12% Male
702000
1
2
3
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
283876
0
2
2
sahajpal_23_ASD/DD/ID_discovery_cases
Individuals with CNVs affecting the 17q25.3 locus containing at least one ASD candidate gene from the Greenwood Genetic Center from 2010 to 2022 (from an initial cohort of 15 cases with 17q25.3 CNVs).
3
Affected individuals presented with autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), learning disability, and/or multiple congenital anomalies.
Range, 5 mos.-23 yrs.
Male
849734
0
1
1
saia_23_TS_discovery_cases
Patients with a clinical diagnosis of Tourette syndrome enrolled between April 2021 and April 2022 (Child and Adolescent Neurology and Psychiatry of the Medical and Experimental Department, Catania University).
93
Cases were diagnosed with Tourette syndrome (TS) according to DSM-5 criteria; symptoms of TS were evaluated with the Yale Global Tic Severity Rating Scale (YGTSS). Co-morbidities included intellectual disability, obsessive compulsive disorder (OCD), oppositional defiant disorder (ODD), ADHD, and ASD.
Mean age, 12.1 +/- 3.1 yrs.
76.3% Male
395426
2
0
2
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
371381
0
2
2
salyakina_11_ASD_discovery_cases
ASD patients from extended ASD families (defined as families with at least two affected cousins)
97
ASD. Inclusion criteria: (1) age between 3 and 21 yrs of age; (2) presumptive clinical diagnosis of ASD; (3) diagnosis determined using DSM-IV criteria supported by ADI-R; (4) IQ > 35 or developmental level >18 months as described by VABS
Range, 3-21 yrs.
61188
0
2
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
151145
52
3
55
sandoval_talamantes_23_ASD_discovery_cases
ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
212
All cases met DSM-5 diagnostic criteria for ASD.
Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
87.73% Male
768573
0
3
3
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
535000
3
1
4
sato_12_ASD_discovery_cases_2
Three additional affected males from four-generation family with ASD/BAP
3
Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
Range, 5 yrs. 8 mos.-95 yrs.
100% Male
1878759
0
1
1
schmidt_24_ASD/DD/ID_discovery_cases
Patients who had undergone exome sequencing and were partially analyzed with next-generation phenotyping approaches enrolled in the TRANSLATE NAMSE prospective study at ten German university hospitals.
1577
The majority of children were assigned to the disease category neurodevelopmental disorders (n=702, 54%); patient phenotypes were also annotated with terms of the Human Phenotype Ontology (HPO) by the respective CRD physicians.
268 adults, 1309 children
421904
1
0
1
schuch_19_ASD_discovery_cases
Childen of European descent diagnosed with idiopathic ASD
40
Cases diagnosed with ASD according to DSM-IV criteria: 55% with autistic disorder, 45% with PDD-NOS, 5% with Asperger syndrome.
Mean, 7.83 2.95 yrs.
90.00% Male
395000
1
0
1
servetti_21_ASD/ID/EP_discovery_cases
Individuals with complex neurodevelopmental disorder (NDD) phenotypes born to non-consanguineous parents, including one affected sib pair.
12
All 12 cases presented with varying degrees of intellectual disability (ID); four cases also presented with epilepsy, while three cases also presented with autism spectrum disorder (ASD).
NA
83.33% Male
443247
2
0
2
shen_10b_ASD_discovery_cases
Father and son from a three-generation Chinese family with ASD and language delay.
2
Diagnosis of ASD based upon DSM-IV criteria.
Range, 12-41 yrs.
100% Male
1250057
1
1
2
shen_10_ASD_discovery_cases
Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
848
ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
277000
1
1
2
shin_15_ASD/DD/ID_discovery_cases
Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
96
34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
N/A
69.8% Male
855000
1
1
2
siu_16_ASD_discovery_cases
41 adult ASD cases (39 males, 2 females, age range of 22-33 years, median age of 27 years) recruited from a cohort of a local study on the adult outcome of children with autism with normal intelligence, and 27 pediatric ASD cases (21 males, 6 females, age range of 2-15 years, median age of 5 years) assessed in the Department of Paediatrics and Adolescent Medicine of Princess Margaret Hospital or T
68
Diagnosis of ASD in cases from the adult cohort was made during childhood (before the year 1990) using Diagnostic and Statistical Manual of Mental Disorders, Third Revised Edition and was confirmed with the developmental, dimensional and diagnostic interview during adulthood; diangosis of ASD in cases from the pediatric cohort was confirmed using ADI-R. IQ of cases in the adult cohort was assessed by Wechsler Adult Intelligence Scale-Third edition (WAIS-III) Chinese version. Developmental delay reported in 13/27 (52.0%) of cases in the pediatric cohort.
Range, 2-33 yrs. (median age of 25 yrs.)
88.23% Male
260000
1
0
1
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
759982
1
0
1
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
562015
3
0
3
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
198100
1
0
1
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
413000
1
0
1
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
43464
1
0
1
van_den_bossche_12_BPD_discovery_cases
Individuals with BPD from Belgium, individuals with BPD originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with BPD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
676
Bipolar disorder (BPD). Final diagnosis based on meeting DSM-IV criteria.
NA
NA
262000
0
7
7
van_den_bossche_12_ID_discovery_cases
Patients recruited through specific psychiatric service in Scotland serving the needs of patients with ID who also suffer from behavioral disorders.
260
Intellectual disability (ID). Cases with total IQ<70 met definition of ID.
NA
NA
262000
1
1
2
van_den_bossche_12_MDD_discovery_cases
Northwestern European individuals with MDD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
169
Major depressive disorder (MDD). Final diagnosis based on meeting DSM-IV criteria.
NA
NA
262000
1
0
1
van_den_bossche_12_SCZ_discovery_cases
Individuals with SCZ from Belgium, individuals with SCZ originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with SCZ contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
1281
Schizophrenia (SCZ). Final diagnosis based on meeting DSM-IV criteria.
NA
NA
262000
5
6
11
van_der_zwaag_10_ASD_discovery_cases
Dutch ASD patient cohort
105
ASD
471000
0
1
1
verberne_22_ASD/DD/ID_discovery_cases
Patients in the Dutch Caribbean referred to a visiting Dutch clinical geneticist between November 2011 and November 2019 by local pediatricians for a clinical genetic evaluation at the outpatient pediatric clinics of the Curacao Medical Center, Dr. Horacio E. Oduber Hospital (Aruba), Fundashon Mariadal (Bonaire), and St. Maarten Medical Center.
331
Common reasons for referral included developmental delay (DD) and/or intellectual disability (ID) (39%), with or without other anomalies, and congenital anomalies (24%); a subset of individuals also presented with autism spectrum disorder (ASD) and/or seizures.
Range, 0-18.7 yrs. (median age 3.95 yrs.)
NA
548436
2
1
3
viggiano_24_ASD_discovery_cases
ASD probands from 116 families (89 simplex, 25 multiplex, and two monozygotic twin pairs) recruited by UOSI Disturbi dello Spettro Autistico (IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy)
144
Cases clinically diagnosed with ASD according to DSM-5 criteria and assessed using ADOS-2 and CARS-2.
Age of diagnosis, 40.1 +/- 22.4 mos. (range, 17-181 mos.)
76.39% Male
481760
1
1
2
werling_19_ASD_discovery_cases
Children and adolescents with high-functioning autism (defined as IQ 70) recruited at the Departments of Child and Adolescent Psychiatry and Psychotherapy, University Hospitals of Psychiatry Zurich, Switzerland and of the University of Wurzburg, Germany
108
Cases fulfilled diagnostic criteria for ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10; diagnosis confirmed using either ADOS or ADI-R
Range, 5-18 yrs (mean, 11.29 3.3 yrs.)
86.11% Male
311908
0
1
1
wintle_10_ASD_discovery_cases
Autism Tissue Program: postmortem brain tissue from Harvard Brain Tissue Resource Center (HBTRC)
34
26 subjects with confirmed or suspected autism, 4 subjects with confirmed autism and 15q duplication, 2 subjects with epilepsy, 1 subject with 15q duplication, & 1 subject with Angelman syndrome
Mean, 25.97 18.93
73.53% Male
1635300
0
2
2
wisniowiecka-kowalnik_12_ASD_discovery_cases
ASD patients from 132 simplex and 13 multiplex families of Polish descent
145
Diagnosis of ASD based on ICD-10 standards and Childhood Autism Rating Scale (CARS) protocol. 45 cases with additional diagnosis of developmental delay /intellectual disability.
Range, 3-26 yrs.
84.83% Male
1500000
1
0
1
wolfe_16_ID_discovery_cases
Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
202
All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
Mean age, 37 yrs. (range, 18-78 yrs.)
63% Male
312099
1
0
1
ye_12_ASD/BPD/MDD/SCZ_discovery_cases
Samples from brains >13 years of age provided by the Stanley Medical Research Institute and the Clinical Brain Disorders Branch of NIMH
486
Autism (ASD), n=10; bipolar disorder (BPD), n=84; major depressive disorder (MDD), n=154; schizophrenia (SCZ), n=193
Mean age of ASD cases, 29.8 yrs; mean age of all other cases, ~ 47 yrs.
54.9% Male
1900000
0
3
3
yingjun_17_ASD_discovery_cases
ASD probands referred to the Clinical Genetics Service for genetic testing
64
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
N/A
N/A
274255
2
0
2
yuan_23_ASD_discovery_cases
ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
369
Cases diagnosed with ASD using DSM-IV.
NA
NA
568
1
0
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
615999
2
1
3
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
849733
16
15
31
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
ahn_13_SCZ_discovery_controls
Full siblings of probands without diagnosis of neurodevelopmental disorder (19 full siblings from original cohort of 117 full siblings were excluded due to diagnoses of schizophrenia, autism, intellectual disability, or bipolar disorder)
98
Control
N/A
N/A
N/A
N/A
N/A
N/A
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
311552
1
0
1
bucan_09_ASD_discovery_controls
1070 healthy children (CHOP), 418 neurologically normal adults and seniors (NINDS control collection)
1488
Controls
591007
0
0
0
bucan_09_ASD_replication_controls
Children of Caucasian ancestry with no history of ASDs (CHOP)
1051
Controls
591007
0
0
0
doornbos_09_15q11.2_discovery_controls
Unselected healthy parents
350
Controls
340000
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
306300
8
4
12
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
572032
16
410
426
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
290000
19
0
19
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
385003
31
230
261
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
309819
2
4
6
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
226404
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
252887
1
6
7
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
648943
6
0
6
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
1770196
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
553938
4
7
11
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
noor_15_DD/ADHD_discovery_controls
Population-based controls from POPGEN (n=1123), Ottawa Heart Institute (n=1234), HapMap Phase 3 (n=1056), Ontario Population Genomics Platform (n=416), Starr County Diabetes study (n=1794), Geneva NHS/HPFS Diabetes study (n=5966), SAGE consortium (n=1287), Health, Aging and Body Composition (Health ABC) Study (n=2566), KORA (n=1775), COGEND (n=1213), and Ontario ARCTIC (n=1120)
19550
Control
N/A
46.3% Male
129000
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
0
0
0
0
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
25668
0
0
0
reinthaler_14_EP_discovery_controls
Unscreened population controls
1512
Control
N/A
49.93% Male
500000
0
8
8
salyakina_11_ASD_discovery_controls
Pediatric control samples recruited by Hussman Institute for Human Genomics (HHIG, Univ. of Miami) and Centennial Medical Center (Nashville, TN) as part of preterm birth study (Nashville Borth Cohort, NBC)
838
Controls. Exclusion criteria: participants, or those with first degree relatives, with developmental, behavioral, or neurological conditions
61188
0
4
4
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
165352
35
1
36
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
16115
1
0
1
van_den_bossche_12_BPD_discovery_controls
Control individuals from Belgium, Sweden, and Scotland
1210
Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
NA
NA
262000
2
6
8
van_den_bossche_12_ID_discovery_controls
Control individuals from Belgium, Sweden, and Scotland
1210
Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
NA
NA
262000
2
6
8
van_den_bossche_12_MDD_discovery_controls
Control individuals from Belgium, Sweden, and Scotland
1210
Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
NA
NA
262000
2
6
8
van_den_bossche_12_SCZ_discovery_controls
Control individuals from Belgium, Sweden, and Scotland
1210
Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
NA
NA
262000
2
6
8
van_der_zwaag_10_ASD_discovery_controls_1
Adult Dutch (at least in 2nd degree) healthy individuals
267
Controls
471000
0
0
0
van_der_zwaag_10_ASD_discovery_controls_2
Psychiatrically unaffected, healthy adult Dutch controls
678
Controls
471000
0
4
4
wintle_10_ASD_discovery_controls_2
Control samples from POPGEN (n=1123) & Ottawa Heart Institute (n=1234); used for identification of rare CNVs in Affymetrix data
2357
Controls
51.3% Male
1635300
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
abdelmoity_12_DD/ID_discovery_cases
NA
aCGH
Agilent 244K
qPCR
ahn_13_SCZ_discovery_cases
N/A
Solid phase hybridization
Illumina Human or HumanOmni Beadchips
PennCNV, QuantiSNP, GNOSIS
Illumina GenomeStudio, CNVision, Nexus copy number
Validation based on familial presence of CNV
akkus_24_ASD/DD/ID_discovery_cases
Turkey
Array SNP
Affymetrix CytoScan Optima
ThermoFisher ChAS v.3.1.
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
akter_24_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24+ v3.0
Illumina CNVPartition 3.2.1 plug-in of GenomeStudio
alayadhi_16_ASD_discovery_cases
Saudi
Solid phase hybridization
Illumina HumanOmni 2.5M
CNVPartition v.3.2.0, Penn CNV
Illumina GenomeStudio (Genotyping module v1.9.4, Genome Viewer v.1.9.0)
qPCR
alvarez-mora_16_ASD_discovery_cases
Spain
aCGH, array SNP
Agilent 180K, Affymetrix CytoScan HD
Agilent Cytogenomics v2.0, Affymetrix ChAS v1.2.2
None
al_ageeli_13_ASD/DD/ID/EP_discovery_cases
N/A
FISH, MLPA, aCGH, solid phase hybridization
Agilent 180K, Illumina Human Cyto SNP-12 V2-1
ADM-2
Agilent CGH Analytcs, Illumina GenomeStudio v2011.1, CNVPartition 3.1.6
None
al_sarraj_24_ASD_discovery_cases
Qatar
Array SNP
Illumina Infinium BeadChip Human1M-Duo-v3, Illumina HumanOmniExpress-12v1-1.
cnvPartition v.3.2.0, QuantiSNP v.2.
Illumina GenomeStudio, PLINK v.1.9.
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
qPCR
bartnik_12_EP_discovery_cases
Poland
aCGH
Custom Agilent 180K V8.0 and V8.1 microarrays designed by Medical Genetics Laboratories at Baylor College of Medicine
BCM web-based software, IMiD-web2py
FISH
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
brandler_16_ASD_discovery_cases
N/A
WGS
Illumina HiSeq
N/A
N/A
None
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
bucan_09_ASD_discovery_cases
Solid phase hybridization
HumanHap550 V3
Penn CNV
qPCR
bucan_09_ASD_replication_cases
European
Solid phase hybridization
HumanHap550 V3
Penn CNV
qPCR
cai_08_ASD_discovery_cases
205 Caucasian, 6 African-American, 24 Hispanic or Latino, 5 Asian, 11 mixed ethnicity, 28 unknown
MLPA
ABI 3130 genetic analyzer (Applied Biosystem)
GeneMarker
Direct DNA sequencing qPCR, FISH
castronovo_14_ASD/DD/EP_discovery_cases
Italian
aCGH
Agilent 244K
Microsatellite analysis, FISH
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Solid phase hybridization (Illumina 1M SNP), qPCR
celestino-soper_12_DD/CHD_discovery_cases
NA
aCGH
Agilent OLIGO custom clinical microarrays versions 7.4 OLIGO, 6.3 OLIGO, 6.4 OLIGO, 8.0 OLIGO, Agilent 105 K-feature SignatureChip Oligo Solution whole-genome custom microarray
None
ceylan_18_DD/ID_discovery_cases
Turkish
Array SNP
Affymetrix CytoScan Optima
ChAS v.3.1
None
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
chung_11_ASD_discovery_cases
Scottish-Canadian
Array SNP
Affymetrix 6.0
HMM
Affymetrix Genotyping Console v.2.1, Birdseed v.2
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
depienne_09_ASD_discovery_cases
89% Caucasian
MLPA
ABI 3730 Sequencer
GeneMarker 1.70
qPCR, FISH
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
doornbos_09_15q11.2_discovery_cases
Dutch
aCGH, array SNP, MLPA
105K oligo array, Affymetrix 262K Nsp1
Feature Extraction V.9., CGH analytics V.3.4.27, CNAG version 2.1
FISH
du_21_ASD/DD/ID/EP_discovery_cases
United States
Solid phase hybridization
Illumina CytoSNP-850Kv1.2 BeadChip
NA
Illumina Genome Studio V2009.2
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
fry_16_DD/ID/EP/ASD_discovery_cases
78 White British, 1 South Asian, 1 Mixed White/South Asian
aCGH, solid phase hybridization
Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
PennCNV
Illumina BlueFuse Multi v3.1
Solid phase hybridization (Illumina)
furley_24_ASD/ID_discovery_cases
Australia
CMA
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gannon_11_ASD/DD_discovery_cases
Gulf Coast of Alabama, Mississippi, & Florida
aCGH
Genome-wide oligo array with 44K platform
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
aCGH (Nimblegen 3x720K or Agilent 2x400K)
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
gorker_18_ASD_discovery_cases
Turkish
aCGH
Agilent SurePrint G3 8x60K
N/A
Agilent Feature Extraction v.12.0.1.1, Agilent Cytogenomics v.2.9.2.4
None
granata_25_ASD_discovery_cases
Italy
aCGH
CytoSure ISCA V3 4x180K
CytoSure Interpret (OGT)
guo_18_ASD/DD/ID_discovery_cases
N/A
WGS
Illumina HiSeq X Ten
dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
aCGH, Sanger sequencing
guo_19_DD/ID_discovery_cases
China
NGS
Illumina HiSeq 2500
m-HMM
FASTQ v.0.18.1
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
husson_20_ASD_discovery_cases
France
WES
Illumina HiSeq4000
CANOES
ddPCR, QMPSF, aCGH
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
jiao_19_EP/DD/ID_discovery_cases
China
WGS
Low-coverage whole genome sequencing
Illumina BclToFastq
None
kalsner_17_ASD_discovery_cases
52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity
CMA
Platform not reported
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
koufaris_16_DD/ID_discovery_cases
Cyprus
MLPA
Methylation-specific MLPA (MS-MLPA)
aCGH (BlueGnome Cytochip ISCA v1.0)
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kucinska_24_ASD_discovery_cases
Poland
aCGH
OGT CytoSure 4x180K
Agilent Feature Extraction v.12.1.0.3, CytoSure Interpret Software v.4.10.
aCGH or FISH
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
MLPA
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
None
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
lintas_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome CGH SurePrint G3 4x180K
ADM-2
Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Validation by visual inspection, RT-PCR, or PCR
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
lob_24_ASD_discovery_cases
United States
CMA
madrigal_12_ASD_discovery_cases
Spain
aCGH
Agilent 244K
Agilent Feature Extraction V9.1, Agilent CGH Analytics V3.4
qPCR
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
martucci_23_ASD_discovery_cases
Italy
Array SNP
Affymetrix Genome-Wide Human 6.0
Affymetrix ChAS v.4.0
RT-PCR
massier_24_ASD/ADHD/DD/ID_discovery_cases
France
CMA
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
mitani_21_DD/ID_discovery_cases
Turkey
WES, WGS
Illumina HiSeq2000, Illumina NovaSeq6000
NA
XHMM, HMZDelFinder, AluAluCNVpredictor, Parliament2
aCGH and/or ddPCR
moessner_07_ASD_discovery_cases
Array SNP
Affymetrix 500K
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
moreira_14_ASD/EP_discovery_cases
Ethnically-mixed Brazilian
Array SNP
Various Affymetrix platforms
None
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
mosrati_12_ASD/MR_discovery_cases
Tunisian
Solid phase hybridization
Illumina HumanCyto12v2.0 BeadChip
QuantiSNP, PennCNV, VanillaICE
BeadStudio V3.3
None
nagamani_12_ASD/DD/ID_discovery_cases
NA
aCGH
Agilent custom-designed array with ~180000 oligos designed in Medical Genetics Laboratory (MGL) at Baylor College of Medicine (BCM)
None
nakamine_08_ASD_discovery_cases
Costa Rican
Array SNP
Affymetrix 500K (NspI and StyI)
HMM
dChip 2006
None
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
noor_15_DD/ADHD_discovery_cases
N/A
aCGH
Custom-designed 4x180K microarray (Oxford Gene Technology)
Agilent Feature Extraction v10.7.11, CytoSure Interpret v3.4.3 (OGT)
MLPA
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
Array SNP (Affymetrix CytoScan HD)
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
None
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
qPCR
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
reinthaler_14_EP_discovery_cases
Caucasian
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
roberts_13_ASD/DD/ID_discovery_cases
N/A
aCGH
105K or 180K oligonucleotide microarray
Nexus Copy Number (BioDiscovery)
BACs aCGH or FISH
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sahajpal_23_ASD/DD/ID_discovery_cases
United States
Array SNP
ThermoFisher CytoScan HD
NA
ThermoFisher ChAS v3.0
qPCR
saia_23_TS_discovery_cases
Italy
aCGH
Agilent 8x60K
ADM-2
Agilent Feature Extraction v.11.5, Agilent Genomic Workbench v.7.0.4.0.
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
salyakina_11_ASD_discovery_cases
Solid phase hybridization
Illumina Human 1Mv1_C BeadChip or Illumina 1M-DuoV3 BeadChip
PennCNV
BeadStudio v3
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
None
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
sato_12_ASD_discovery_cases_2
Canadian
aCGH
Agilent SurePrint G3 Human CGH 1x1M
DNA Analytics, CBS/DNAcopy
None
schmidt_24_ASD/DD/ID_discovery_cases
Germany
aCGH, Exome sequencing
Illumina HiSeq 2500 or NovaSeq 6000
ExomeDepth v1.1.10, ClinCNV v1.16.1
schuch_19_ASD_discovery_cases
European
aCGH
Agilent 8x60K
ADM-2
Agilent Feature Extraction v.9.5.1, Agilent Cytogenomics v.2.7.8.0
None
servetti_21_ASD/ID/EP_discovery_cases
Italy
aCGH
Agilent Human Genome CGH 180K
NA
Agilent CytoGenomics
None
shen_10b_ASD_discovery_cases
Chinese
aCGH
Agilent 244K
DNA Analytics
shen_10_ASD_discovery_cases
aCGH, array SNP
Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
BRLMM, CNAT4, Partek Genomic Suite
CGH Analytics, DNA Analytics software
None
shin_15_ASD/DD/ID_discovery_cases
Korean
MLPA
SALSA MLPA P245 Microdeletion Syndromes probemix
GeneMarker (SoftGenetics); Affymetrix ChAS v2.1, Nexus Copy Number v.7.5 (BioDiscovery)
Array SNP (Affymetrix CytoScan 750K)
siu_16_ASD_discovery_cases
Hong Kong
aCGH
NimbleGen CGX-135K
DEVA, Genoglyphix
None
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
qPCR
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
CMA, karyotyping, and/or MLPA
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
van_den_bossche_12_BPD_discovery_cases
264 from Belgium, 305 from Sweden, 107 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_ID_discovery_cases
Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_MDD_discovery_cases
Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_SCZ_discovery_cases
170 from Belgium, 543 from Sweden, 568 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_der_zwaag_10_ASD_discovery_cases
Dutch
Solid phase hybridization
HumanHap300 Beadchip
Beadstudio V2.3.41
FISH, MLPA
verberne_22_ASD/DD/ID_discovery_cases
Dutch Caribbean
CMA
NA
NA
NA
None
viggiano_24_ASD_discovery_cases
Italy
Array SNP, WGS
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
Canvas
Array SNP or WGS
werling_19_ASD_discovery_cases
Europe
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
None
wintle_10_ASD_discovery_cases
31 European, 2 East Asian, 1 African
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Human 1M-duo
PennCNV, Birdsuite, iPattern
QuantiSNP, Affymetrix Genotyping Console
Solid phase hybridization
wisniowiecka-kowalnik_12_ASD_discovery_cases
Polish
aCGH
OLIGO V8.0 and V8.1 exon-targeted CMA (MGL/BCM)
BCM web-based software, custom-designed IMiD-web2py software
FISH
wolfe_16_ID_discovery_cases
74% White British
aCGH
Nimblegen 135K
qPCR, FISH, QF-PCR
ye_12_ASD/BPD/MDD/SCZ_discovery_cases
NA
Solid phase hybridization
Illumina 1M Duo SNP chip
PennCNV, QuantiSNP
Illumina GenomeStudio V2010.1
None
yingjun_17_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
yuan_23_ASD_discovery_cases
China
WES
Illumina HiSeq
NA
GATK v.4.2.0.0.
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
ahn_13_SCZ_discovery_controls
N/A
Solid phase hybridization
Illumina Human or HumanOmni Beadchips
PennCNV, QuantiSNP, GNOSIS
Illumina GenomeStudio, CNVision, Nexus copy number
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
bucan_09_ASD_discovery_controls
European
Solid phase hybridization
HumanHap550 V3
Penn CNV
bucan_09_ASD_replication_controls
European
Solid phase hybridization
HumanHap550 V3
Penn CNV
cai_08_ASD_discovery_controls
Caucasian
qPCR
ABI Prism 7900 HT (Applied Biosystem)
Sequence Detection
doornbos_09_15q11.2_discovery_controls
Dutch
aCGH
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
aCGH (Nimblegen 3x720K or Agilent 2x400K)
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
larson_17_ASD_discovery_controls
N/A
N/A
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
noor_15_DD/ADHD_discovery_controls
N/A
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Illumina 1M-Duo, Illumina Omni 2.5M, Affymetrix 500K
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
reinthaler_14_EP_discovery_controls
German
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
salyakina_11_ASD_discovery_controls
727 Caucasian, 111 African-American
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
van_den_bossche_12_BPD_discovery_controls
357 from Belgium, 502 from Sweden, 351 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_ID_discovery_controls
357 from Belgium, 502 from Sweden, 351 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_MDD_discovery_controls
357 from Belgium, 502 from Sweden, 351 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_SCZ_discovery_controls
357 from Belgium, 502 from Sweden, 351 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_der_zwaag_10_ASD_discovery_controls_1
Dutch
Solid phase hybridization
HumanHap300 Beadchip
Beadstudio V2.3.41
van_der_zwaag_10_ASD_discovery_controls_2
Dutch
Solid phase hybridization
HumanHap300 Beadchip
Beadstudio V2.3.41
wintle_10_ASD_discovery_controls_2
99% European
N/A
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
abdelmoity_12_DD/ID_discovery_cases-case1
<1 yrs
F
Dysmorphic features
EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: NA. Dysmorphism: severe microcephaly and encephalocele. Other organ abnormalities: none.
Intellectual disability/global developmental delay: NA.
NA
NA
350000
Unknown
Deletion
Yes
abdelmoity_12_DD/ID_discovery_cases-case10
NA
F
Developmental delay/intellectual disability
EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: mild. Dysmorphism: short, small nose with upturned tip. Other organ abnormalities: mild hyperextensibility, generalized keratosis.
Intellectual disability/global developmental delay: mild.
NA
NA
350000
Unknown
Deletion
Yes
abdelmoity_12_DD/ID_discovery_cases-case11
4 yrs.
F
Developmental delay/intellectual disability
EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: moderate. Dysmorphism: broad eyebrows, mild synophyrs, large ears. Other organ abnormalities: widely spaced small teeth. Cinically unaffected mother.
Intellectual disability/global developmental delay: moderate.
NA
NA
350000
Unknown
Deletion
Yes
abdelmoity_12_DD/ID_discovery_cases-case12
6 yrs.
M
Developmental delay/intellectual disability
EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: mild. Dysmorphism: none. Other organ abnormalities: none. Brother with 15q11.2 deletion, but parental samples NA.
Intellectual disability/global developmental delay: moderate.
NA
NA
350000
Unknown
Deletion
Yes
abdelmoity_12_DD/ID_discovery_cases-case13
13 yrs.
F
Developmental delay/intellectual disability
EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: mild. Dysmorphism: microcephaly, mild prognathia, up-slanting palpebral fissures, sparse eyebrows, posteriorly rotated low set ears. Other organ abnormalities: hands with wide first digits and lowest thumbs with short fifth fingers and mild clinodactyly, mild hearing loss.
Intellectual disability/global developmental delay: mild.
NA
NA
350000
Unknown
Deletion
Yes
abdelmoity_12_DD/ID_discovery_cases-case14
4 yrs.
F
Developmental delay/intellectual disability and epilepsy
EEG: generalized. Epilepsy type: focal. Hyperactivity/inattention: none. Dysmorphism: microcephaly, cleft lip and palate. Other organ abnormalities: none. Clinically unaffected mother.
Intellectual disability/global developmental delay: mild.
NA
NA
350000
Unknown
Deletion
Yes
abdelmoity_12_DD/ID_discovery_cases-case15
3 yrs.
M
Developmental delay/intellectual disability
EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: none. Other organ abnormalities: none. Father with similar neuropsychiatric problems, identical twin also carries 15q11.2 deletion.
Intellectual disability/global developmental delay: mild.
NA
NA
350000
Unknown
Deletion
Yes
abdelmoity_12_DD/ID_discovery_cases-case16
2 yrs.
F
Hypotonia
EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: none. Other organ abnormalities: severe hypotonia. Clinically unaffected father.
Intellectual disability/global developmental delay: none.
NA
NA
350000
Unknown
Deletion
Yes
abdelmoity_12_DD/ID_discovery_cases-case17
13 yrs.
M
Developmental delay/intellectual disability
EEG: normal. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: none. Other organ abnormalities: severe food aversion.
Intellectual disability/global developmental delay: mild.
NA
NA
350000
Unknown
Duplication
Yes
abdelmoity_12_DD/ID_discovery_cases-case18
8 yrs.
F
Developmental delay/intellectual disability
EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: abnormally shaped ears bilaterally, pointed chin, flat nasal bridge, small palpebral fissures. Other organ abnormalities: T11 hemivertebrae and scoliosis.
Intellectual disability/global developmental delay: mild.
NA
NA
350000
Unknown
Duplication
Yes
abdelmoity_12_DD/ID_discovery_cases-case19
3 yrs.
F
Epilepsy
EEG: focal. Epilepsy type: focal. Hyperactivity/inattention: none. Dysmorphism: none. Other organ abnormalities: left hemispheric cortical dysplasia.
Intellectual disability/global developmental delay: none.
NA
NA
350000
Unknown
Duplication
Yes
abdelmoity_12_DD/ID_discovery_cases-case2
1 yr.
M
Developmental delay/intellectual disability
EEG: NA. Epilepsy type: NA. Hyperactivity/inattention: NA. Dysmorphism: hypertelorism. Other organ abnormalities: NA.
Intellectual disability/global developmental delay: mild.
NA
NA
350000
Unknown
Deletion
Yes
abdelmoity_12_DD/ID_discovery_cases-case20
4 yrs.
M
Developmental delay/intellectual disability
EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: none. Other organ abnormalities: toe walking.
Intellectual disability/global developmental delay: mild.
NA
NA
350000
Unknown
Duplication
Yes
abdelmoity_12_DD/ID_discovery_cases-case21
9 yrs.
M
Developmental delay/intellectual disability
EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: none. Other organ abnormalities: none.
Intellectual disability/global developmental delay: mild.
NA
NA
350000
Unknown
Duplication
Yes
abdelmoity_12_DD/ID_discovery_cases-case22
1 yr.
M
Multiple congenital anomalies (MCA)
EEG: none. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: craniosynostosis, cleft palate, both ears slightly low, left ear posteriorly rotated, hypoplastic right ear, anteverted nares, retrognathia. Other organ abnormalities: atrial septal defect, ventricular septal defect, patient ductus arteriosus, multicystic dysplastic left kidney, deformity of the right hand and forearm (radial abnormality), multiple vertebral anomalies of the thoracic and cervical regions including hemivertebra and segmental anomalies, short webbed neck, right hand syndactyly.
Intellectual disability/global developmental delay: NA.
NA
NA
350000
Unknown
Duplication
Yes
abdelmoity_12_DD/ID_discovery_cases-case23
5 yrs.
NA
Developmental delay/intellectual disability and epilepsy
EEG: focal. Epilepsy type: focal. Hyperactivity/inattention: none. Dysmorphism: hypertelorism, long palpebral fissures. Other organ abnormalities: none.
Intellectual disability/global developmental delay: mild.
NA
NA
350000
Unknown
Duplication
Yes
abdelmoity_12_DD/ID_discovery_cases-case24
9 yrs.
M
Developmental delay/intellectual disability
EEG: NA. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: none. Other organ abnormalities: none.
Intellectual disability/global developmental delay: severe.
NA
NA
350000
Unknown
Duplication
Yes
abdelmoity_12_DD/ID_discovery_cases-case25
7 yrs.
F
Developmental delay/intellectual disability
EEG: normal. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: none. Other organ abnormalities: acquired cerebellar atrophy, prominent ataxia, chronic neutropenia.
Intellectual disability/global developmental delay: mild.
NA
NA
350000
Unknown
Duplication
Yes
abdelmoity_12_DD/ID_discovery_cases-case26
5 yrs.
M
Developmental delay/intellectual disability and epilepsy
EEG: normal. Epilepsy type: focal. Hyperactivity/inattention: none. Dysmorphism: frontal bossing, frontal hair whorl, frontal upsweep, flat midface, flat nasal bridge. Other organ abnormalities: none.
Intellectual disability/global developmental delay: mild.
NA
NA
350000
Unknown
Duplication
Yes
abdelmoity_12_DD/ID_discovery_cases-case27
NA
NA
NA
Excluded from further analysis due to additional genetic abnormalities
NA
NA
350000
Unknown
Deletion
No
abdelmoity_12_DD/ID_discovery_cases-case28
NA
NA
NA
Excluded from further analysis due to additional genetic abnormalities
NA
NA
350000
Unknown
Deletion
No
abdelmoity_12_DD/ID_discovery_cases-case29
NA
NA
NA
Excluded from further analysis due to additional genetic abnormalities
NA
NA
350000
Unknown
Deletion
No
abdelmoity_12_DD/ID_discovery_cases-case3
12 yrs.
M
Developmental delay/intellectual disability
EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: NA. Dysmorphism: mild microcephaly. Other organ abnormalities: none. Brother with same deletion, but parental samples NA.
Intellectual disability/global developmental delay: mild.
NA
NA
350000
Unknown
Deletion
Yes
abdelmoity_12_DD/ID_discovery_cases-case30
NA
NA
NA
Excluded from further analysis due to additional genetic abnormalities
NA
NA
350000
Unknown
Deletion
No
abdelmoity_12_DD/ID_discovery_cases-case31
NA
NA
NA
Excluded from further analysis due to additional genetic abnormalities
NA
NA
350000
Unknown
Deletion
No
abdelmoity_12_DD/ID_discovery_cases-case32
NA
NA
NA
Excluded from further analysis due to additional genetic abnormalities
NA
NA
350000
Unknown
Duplication
No
abdelmoity_12_DD/ID_discovery_cases-case33
NA
NA
NA
Excluded from further analysis due to additional genetic abnormalities
NA
NA
350000
Unknown
Duplication
No
abdelmoity_12_DD/ID_discovery_cases-case4
13 yrs.
M
Developmental delay/intellectual disability and epilepsy
EEG: generalized. Epilepsy type: generalized. Hyperactivity/inattention: NA. Dysmorphism: none. Other organ abnormalities: none.
Intellectual disability/global developmental delay: moderate.
NA
NA
350000
Unknown
Deletion
Yes
abdelmoity_12_DD/ID_discovery_cases-case5
1 yr.
M
Cardiac anomalies
EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: none. Other organ abnormalities: heart murmur (normal EKG).
Intellectual disability/global developmental delay: none.
NA
NA
350000
Unknown
Deletion
Yes
abdelmoity_12_DD/ID_discovery_cases-case6
8 yrs.
F
Developmental delay/intellectual disability
EEG: not tested. Epilepsy type: none. Hyperactivity/inattention mild:. Dysmorphism: none. Other organ abnormalities: small pectus excavatum and mildly high palate. Sister with 15q11.2 deletion; clinically unaffected father.
Intellectual disability/global developmental delay: moderate.
NA
NA
350000
Unknown
Deletion
Yes
abdelmoity_12_DD/ID_discovery_cases-case7
6 yrs.
M
Developmental delay/intellectual disability
EEG: normal. Epilepsy type: none. Hyperactivity/inattention: moderate. Dysmorphism: macrocephaly, frontal bossing. Other organ abnormalities: hypotonia, high arched palate.
Intellectual disability/global developmental delay: moderate.
NA
NA
350000
Unknown
Deletion
Yes
abdelmoity_12_DD/ID_discovery_cases-case8
2 yrs.
M
Developmental delay/intellectual disability
EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: none. Dysmorphism: alar flaring. Other organ abnormalities: mild syndactyly. Two sisters with 15q11.2 deletion; clinically unaffected mother.
Intellectual disability/global developmental delay: mild.
NA
NA
350000
Unknown
Deletion
Yes
abdelmoity_12_DD/ID_discovery_cases-case9
3 yrs.
M
Developmental delay/intellectual disability
EEG: not tested. Epilepsy type: none. Hyperactivity/inattention: moderate. Dysmorphism: macrocephaly. Other organ abnormalities: none. Mother with similar neuropsychiatric problems.
Intellectual disability/global developmental delay: mild.
NA
NA
350000
Unknown
Deletion
Yes
ahn_13_SCZ_discovery_cases-NSB_ID1358
N/A
N/A
Schizophrenia
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
IQ 70
22645574
23220738
575165
GRCh38
Deletion
Yes
ahn_13_SCZ_discovery_cases-NSB_ID448
N/A
N/A
Schizophrenia
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
IQ 70
20352819
22308242
1955424
GRCh38
Deletion
No
akkus_24_ASD/DD/ID_discovery_cases-case19C
1 yr.
F
Developmental delay
Developmental delay
22770421
23654294
883874
GRCh37
Duplication
No
akkus_24_ASD/DD/ID_discovery_cases-case22C
6 yrs.
M
Intellectual disability and learning disability
Obesity
Intellectual disability, learning disability
22770421
23214984
444564
GRCh37
Duplication
No
akkus_24_ASD/DD/ID_discovery_cases-case30C
6 yrs.
M
Intellectual disability
Obesity
Intellectual disability
22770421
23214984
444564
GRCh37
Duplication
No
akkus_24_ASD/DD/ID_discovery_cases-case39A
11 yrs.
F
Behavioral problems
Behavioral problems
22770421
23276605
506185
GRCh37
Deletion
No
akter_23_ASD/ADHD/DD/ID_discovery_cases-case135
5.67 yrs.
M
ASD and developmental delay
Autism, speech delay, developmantal delay, hyperactivity. Growth parameters: height 1.03 m, weight 15 kg, head circumference 48 cm. Family history: no data on familial consanguinity.
23113538
23424643
311106
GRCh38
Deletion
No
akter_24_ASD/ADHD/DD/ID_discovery_cases-case578
0.3 yrs.
M
Seizures
Epilepsy/seizures: seizure (HP:0001250). Dysmorphic features: abnormal facial shape (HP:0001999). Growth parameters: head circumference 39 cm, height 57 cm, weight 4.5 kg.
25306651
25444154
137504
GRCh38
Duplication
No
alayadhi_16_ASD_discovery_cases-caseAUT1-1
N/A
M
Autism
CARS score of 30.5; Social Responsiveness Scale (SRS) score N/A; Sensory profile score of 138.
24136058
24193009
56952
GRCh38
Deletion
Yes
alayadhi_16_ASD_discovery_cases-caseAUT1-2
N/A
M
Autism
CARS score of 37.0; Social Responsiveness Scale (SRS) score of 76; Sensory profile score of 137.
24136058
24193009
56952
GRCh38
Deletion
Yes
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case10
6 yrs.
F
ASD, developmental delay, learning disabilities, and epilepsy/seizures
Birth/neonatal history: uneventful prenatal period; birth weight 25th %ile, length 25th %ile, OFC 80th %ile; neonatal hypotonia. Developmental milestones: developmental delay, motor delay, speech delay. Behavioral/psychiatric evaluation: ASD, sleep disorders. Epilepsy/seizures: seizures. Visual evaluation: strabismus, hypermetropia. Dysmorphic features: high forehead, hypertelorism, short nose with anteverted nares, marked philtrum. Family history: phenotypically normal mother.
Learning disabilities
18668097
20220616
1552520
GRCh37
Duplication
No
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case32
9 yrs.
M
ASD, developmental delay, and learning disabilities
Birth/neonatal history: birth weight 75th %ile, length 90th %ile, OFC 90th %ile. Developmental milestones: developmental delay, speech delay. Behavioral/psychiatric evaluation: ASD, sleep disorders.
Learning disabilities
20276449
22221303
1944855
GRCh38
Duplication
No
alvarez-mora_16_ASD_discovery_cases-caseASD-12
N/A
M
ASD
Case fulfilled DSM-5 criteria for ASD; diagnosis confirmed with ADI-R. Family history: father meets criteria for broader autism phenotype.
21243569
22308242
1064674
GRCh38
Duplication
No
alvarez-mora_16_ASD_discovery_cases-caseASD-58
N/A
M
ASD
Case fulfilled DSM-5 criteria for ASD; diagnosis confirmed with ADI-R.
22584746
23102647
517902
GRCh38
Duplication
No
al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient15
7 yrs.
F
Developmental delay and epilepsy
Genetics: chromosomal anomaly, SMC15. Developmental milestones: psychomotor delay, speech delay; age of sitting, 12 months; age of walking, N/A. Motor and musculoskeletal evaluation: global hypotonia. Behavioral/psychiatric evaluation: outbursts of laughter. Epilepsy/seizures: yes (sporadic episode of absence and atonic crisis). EEG: abnormal. Brain imaging: abnormal brain MRI (subcortical and/or periventricular hyperdensity of white matter). Other features: none reported. Dysmorphic features: mild facial dysmorphism (suborbital edema, deep set eyes, narrow palpebral fissures, upturned nose, long philtrum, attached ear lobule). Growth parameters: short stature; head circumference N/A (1 SD), weight of 10 kg (-0.25 SD), and height of 71 cm (-2.5 SD) at age of 17 months. Family history: maternal age at birth, 32 yrs.; paternal age at birth, 33 yrs.
Learning disability
BP1 (precise start not provided)
BP2 (precise end not provided)
N/A
Unknown
Duplication
No
al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient26
9 yrs.
M
ASD
Genetics: chromosomal anomaly, interstitial duplication of chromosome 15. Developmental milestones: mild speech delay; age of sitting, N/A; age of walking, 10 months. Motor and musculoskeletal evaluation: no anomalies reported. Behavioral/psychiatric evaluation: autism. Epilepsy/seizures: none. EEG: abnormal. Brain imaging: not performed yet. Other features: none reported. Dysmorphic features: hypopigmented skin. Growth parameters: head circumference of 50 cm (-1 SD), weight of 18.200 kg (1 SD), and height of 111 cm (1.8 SD) at age of 4.5 years. Family history: maternal age at birth, 33 yrs.; paternal age at birth, 27 yrs.
Learning disability
BP1 (precise start not provided)
prox.BP2-BP3 (precise end not provided)
N/A
Unknown
Duplication
No
al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient27
4.5 yrs.
M
ASD
Genetics: chromosomal anomaly, interstitial duplication of chromosome 15. Developmental milestones: speech delay; age of sitting, N/A; age of walking, 12 months. Language and communication evaluation: no verbal language. Motor and musculoskeletal evaluation: no anomalies reported. Behavioral/psychiatric evaluation: autism, no eye-to-eye contact, anxiety, gesture stereotypies, sleep disturbance. Epilepsy/seizures: none reported. EEG: not performed yet. Brain imaging: not performed yet. Other features: none reported. Dysmorphic features: facial dysmorphism. Growth parameters: head circumference of 49.5 cm (-1.5 SD), weight of 18 kg (0.5 SD), and height of 109 cm (1 SD) at age of 4.5 years. Family history: maternal age at birth, 30.5 yrs.; paternal age at birth, 33 yrs.
Learning disability
prox.BP2 (precise start not provided)
BP3 (precise end not provided)
N/A
Unknown
Duplication
No
al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient28
4 mos.
F
Epilepsy
Patient died at 4 months of age. Genetics: chromosomal anomaly, interstitial duplication of chromosome 15. Developmental milestones: psychomotor delay. Motor and musculoskeletal evaluation: hypotonia, proximal implantation of thumbs. Behavioral/psychiatric evaluation: N/A. Epilepsy/seizures: yes (status epilepticus). EEG: abnormal. Brain imaging: abnormal brain MRI (triventricular dilation without other abnormalities). Other features: none reported. Dysmorphic features: facial dysmorphism (low set posteriorly rotated ears, smooth philtrum, narrow palpebral fissures). Growth parameters: N/A. Family history: maternal age at birth, N/A; paternal age at birth, N/A.
prox.BP2 (precise start not provided)
BP3 (precise end not provided)
N/A
Unknown
Duplication
No
al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient29
7.5 yrs.
M
ASD
Genetics: chromosomal anomaly, interstitial duplication of chromosome 15. Developmental milestones: slight speech delay; age of sitting, N/A; age of walking, 12 months. Language and communication evaluation: speech problem (phonologic syntaxic dysphasia); slight speech delay with dysarthria, some difficulties in communication that improved with time. Motor and musculoskeletal evaluation: no anomalies reported. Behavioral/psychiatric evaluation: autism; anxiety. Epilepsy/seizures: none reported. EEG: normal. Brain imaging: not performed yet. Other features: none reported. Dysmorphic features: facial dysmorphism. Growth parameters: head circumference of 50 cm (-1.5 SD), weight of 18 kg (-1 SD), and height of 115 cm (-0.25 SD) at age of 6.5 years. Family history: maternal age at birth, 22 yrs.; paternal age at birth, 33 yrs.
Learning disability, normal intellectual function
prox.BP2 (precise start not provided)
BP3 (precise end not provided)
N/A
Unknown
Duplication
No
al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient30
5 yrs.
M
Developmental delay
Genetics: chromosomal anomaly, interstitial duplication of chromosome 15. Developmental milestones: psychomotor delay; speech delay; age of sitting, 12 months; age of walking, 24 months. Motor and musculoskeletal evaluation: no anomalies reported. Behavioral/psychiatric evaluation: no disturbances reported. Epilepsy/seizures: none reported. EEG: not performed yet. Brain imaging: normal brain MRI. Other features: none reported. Dysmorphic features: none reported. Growth parameters: head circumference not yet determined, weight of 16.600 kg (M), and height of 109 cm (1 SD) at age of 4.5 years. Family history: maternal age at birth, N/A; paternal age at birth, N/A.
Learning disability
BP1 (precise start not provided)
BP2 (precise end not provided)
N/A
Unknown
Duplication
No
al_sarraj_24_ASD_discovery_cases-case10
ASD
Case was diagnosed with ASD according to DSM-5 criteria.
22753733
23367070
613338
GRCh37
Duplication
No
annunziata_21_ASD_discovery_cases-caseIB248
NA
M
ASD
Case diagnosed with ASD (ADOS comparative score 6, ADOS social affect domain score 0.7, ADOS restricted and repetitive behaviors domain score 0.5). Birth/neonatal history: listeriosis at 37 weeks gestation; delivery by caesarean section at 37 weeks gestation due to fetal distress. EEG: normal. Brain imaging: lateral ventricular dilatation, dysmorphic hyppocampus, thin corpus callosum. Additional medical history: congenital urinary malformation. Dysmorphic features: none. Growth parameters: height > 97th percentile, weight 90th-97th percentile, head circumference 50th-75th percentile. Family history: positive for neuropsychiatric disorders (psychiatric disorders in maternal grandfather, neurologic autoimmune disorder in paternal grandfather).
Total IQ/GQ 46
22612611
23107411
494801
GRCh38
Deletion
Yes
annunziata_21_ASD_discovery_cases-caseIB251
NA
M
ASD
Case diagnosed with ASD (ADOS comparative score 6, ADOS social affect domain score 1.2, ADOS restricted and repetitive behaviors domain score 0.25. Birth/neonatal history: threatened miscarriage during second trimester, treated with tocolytic drugs; threatened preterm delivery at 24 weeks gestation; delivery at term via caesarean section. EEG: norrmal. Brain imaging: normal. Additional medical history: none. Dysmorphic features: none. Growth parameters: height 10th-25th %ile, weight 10th-25th %ile, head circumference 10th-25th %ile. Family history: positive for neurodevelopmental disorders (intellectual disability and language retardation in maternal family).
Total IQ/GQ 96
22612611
23226874
614264
GRCh38
Duplication
Yes
bacchelli_20_ASD_discovery_cases-caseAB111
N/A
M
ASD
Diagnosis of PDD according to DSM-IV
22644384
23226874
582491
GRCh38
Duplication
Yes
bartnik_12_EP_discovery_cases-case5
NA
F
Epilepsy
Age of onset of epilepsy: 3 years. Seizure types/epilepsy syndrome: juvenile myoclonic epilepsy (JME) with myoclonus and generalized tonic-clonic seizures (GTCS), and absence seizures with eyelid myoclonus. Headaches. Parental phenotype: unknown.
Normal IQ
22811062
23030925
219864
GRCh38
Deletion
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case27
9 yrs. 10 mos.
M
Autism and developmental delay/intellectual disability
Autism: yes (autism). Epilepsy: no. Dysmorphic features: yes.
Moderate DD/ID
22787972
23088545
300574
GRCh38
Duplication
Yes
brandler_16_ASD_discovery_cases_case1
N/A
N/A
ASD
Case had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician
N/A
N/A
N/A
GRCh37
Deletion
No
brandler_16_ASD_discovery_cases_case2
N/A
N/A
ASD
Case had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician
N/A
N/A
N/A
GRCh37
Deletion
No
brandler_18_ASD_discovery_cases-caseSSC02782
N/A
M
ASD
Case from SSC cohort
22491296
23126367
635072
GRCh38
Deletion
Yes
bucan_09_ASD_discovery_cases-patient38
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient39
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient40
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient41
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient42
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient43
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient44
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient45
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient46
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient47
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient48
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient49
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient50
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient51
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient52
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient53
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient54
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient55
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient56
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient57
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient58
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient59
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient60
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient61
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient62
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient63
NA
ASD
NA
NA
591007
Unknown
Deletion
Yes
bucan_09_ASD_replication_cases-patient16
NA
ASD
NA
NA
24921
Unknown
Deletion
Yes
bucan_09_ASD_replication_cases-patient17
NA
ASD
NA
NA
926360
Unknown
Deletion
Yes
cai_08_ASD_discovery_cases-AU013203
7.1
M
Autism
Non-verbal language 14, Social 24, Repetitive behavior 5, Onset 5, Raven NA
NA
120000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU013204
7.1
M
Autism
Non-verbal language 14, Social 23, Repetitive behavior 4, Onset 5, Raven NA
NA
120000
Unknown
Duplication
Yes
castronovo_14_ASD/DD/EP_discovery_cases-case1
3 yrs. 9 mos.
M
Autism, developmental delay, and epilepsy
Case diagnosed with autism (formal evaluation using ADOS). Birth/neonatal history: pregnancy and delivery at term without complication; birth weight of 4120 g (90th-97th %ile), length of 52 cm (75th %ile), and OFC of 35 cm (50th %ile); Apgar scores of 9-10. Lanaguage and communication evaluation: absence of verbal communication. Motor and musculoskeletal evaluation: severe generalized hypotonia with ataxic gait and poor chewing. Behavioral/psychiatric evaluation: motor stereotypies of the lips, tongue, and hands; inconstant eye contact, use of mother's hands, escape into his own world, and stereotyped search for sound and tactile stimuli noted; not toilet trained. Epilepsy/seizures: "critical episodes", characterized by upper limb extension and deviation of gaze upwards lasting for periods of a few seconds, occurred at age of 6 months; epilepsy successfully treated with Depakine. EEG: sharp and wave anomalies in a disorganized context, which disappeared under therapy. Additional medical history: constipation, recurrent otitis reported by mother at age of 19 months. Dysmorphic features: mild craniofacial dysmorphism; arched eyebrows, hypertelorism, wide mouth. Growth parameters: weight of 16.4 kg (50th-85th %ile), height of 101 cm (~50th %ile), and OFC of 49.5 cm (15th-50th %ile) at age of 3 years 9 months. Family history: third-born child of healthy, non-consanguineous parents (at time of birth, mother was 39 and father was 35); two healthy older brothers; mother had two prior miscarriages, both in first trimester.
Severe developmental delay
22358243
23204016
845774
GRCh38
Duplication
Yes
celestino-soper_11_ASD_discovery_cases-11149
NA
M
ASD
NA
NA
20383293
20428318
45026
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11265
NA
M
ASD
NA
NA
22436366
23037199
600834
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11443
NA
M
ASD
NA
NA
20383293
22308242
1924950
GRCh38
Deletion
Yes
celestino-soper_12_DD/CHD_discovery_cases-patient6
3 yrs.
M
Developmental delay (DD)
Diagnosis of sensory processing disorder with developmental dyspraxia. Birth/neonatal history: no complications during pregnancy; born after an induced vaginal delivery due to maternal hypertension. Developmental milestones: global developmental and learning delays. Language and communication evaluation: speech problems; did not speak any words at time of evaluation; reported use of two signs, better receptive language than expressive language, usage of a lot of body language. Motor and musculoskeletal evaluation: hypotonia; fatigue; lack of coordination. Behavioral and psychiatric evalation: hyperactivity, easily distracted, destructive, wild. Epilepsy/seizures: history of febrile seizures. Other medical concerns or comorbidites: tracheostomy, heel cord release, history of G-tube (removed). Brain imaging: tiny frontal lobe hemorrhages on an MRI performed a few days after his birth; arachnoid cyst on CT. Cardiac evaluation: heart murmur, atrial septal defect, and bicuspid aortic valve. Recurrent infections: asthma and recurrent aspiration pneumonia. Hearing evaluation: mild hearing loss on Auditory Brainstem Response Evaluation. Dysmorphic features: stocky appearance, frontal upsweep, wide spaced and deep set eyes, broad forehead, mild micrognathia (status post tracheostomy), small thumbs, biparietal bossing, small ears, narrow alveolar archis, missing teeth, mandibular hypoplasia, a history of jaw distraction, eczema, possible submucous cleft palate, flared ribs, and bilateral clinodactyly. Family history: parental blood samples NA.
Global developmental and learning delays
20360277
22308242
1947966
GRCh38
Duplication
No
ceylan_18_DD/ID_discovery_cases-case13
6 yrs.
N/A
Developmental delay and intellectual disability
Developmental milestones: developmental delay. Dysmorphic features: hypertelorism, short palpebral fissures, blepharophimosis. Other findings: corpus callosum agenesis, hypothyroidism.
Intellectual disability
22596491
23102647
506157
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case130
N/A
M
Developmental delay and ADHD
Short stature, developmental delay, ADHD and facial dysmorphism
22663442
23102647
439206
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case270
N/A
M
Developmental delay and epilepsy
Convulsions, congenital anomalies, developmental delay, epilepsy, hearing deficit, facial dysmorphism and hirsutism
22590297
23102647
512351
GRCh38
Deletion
No
chaves_24_ASD/DD/ID_discovery_cases-case1068
M
ASD, developmental delay, and intellectual disability
Failure to thrive, microcephaly, developmental delay, psychomotor agitation, ASD, congenital cardiopathy, bilateral ectopic testis, right hemiparesis, altered MRI
Intellectual disability, specific learning disability
22770422
23277436
507015
GRCh37
Deletion
No
chehbani_22_ASD_discovery_cases-case44
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
20564608
23208901
2644294
GRCh37
Duplication
No
chung_11_ASD_discovery_cases-proband
12
F
ASD
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
20235273
22300068
2064796
GRCh38
Duplication
No
chung_11_ASD_discovery_cases-proband
12
F
ASD
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
24429592
24473437
43846
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case117
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
22765628
23085096
319469
GRCh37
Duplication
No
cucinotta_23_ASD_discovery_cases-case177
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
22765628
23179948
414321
GRCh37
Duplication
No
cucinotta_23_ASD_discovery_cases-case222
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
22765628
23179948
414321
GRCh37
Duplication
No
cucinotta_23_ASD_discovery_cases-case235
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
22765628
23208901
443274
GRCh37
Deletion
No
cucinotta_23_ASD_discovery_cases-case96
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
24161748
24224993
63246
GRCh38
Deletion
No
davis_09_ASD_discovery_cases-AU001505
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
18446422
20343286
1896864
Unknown
Deletion
No
davis_09_ASD_discovery_cases-AU002105
NA
NA
Non-syndromic ASD
Diagnosis: NQA/Autism on ADOS. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
18446422
20343286
1896864
Unknown
Duplication
No
davis_09_ASD_discovery_cases-AU0039303
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
18446422
20079140
1632718
Unknown
Deletion
No
davis_09_ASD_discovery_cases-AU007605
NA
NA
Non-syndromic ASD
Diagnosis: Autism/spectrum on ADOS. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
19464910
20517099
1052189
Unknown
Deletion
No
davis_09_ASD_discovery_cases-AU017704
NA
NA
Non-syndromic ASD
Diagnosis: Autism/Not spectrum on ADOS. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
19464910
20343286
878376
Unknown
Deletion
No
davis_09_ASD_discovery_cases-AU018304
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
18446422
20079140
1632718
Unknown
Duplication
No
davis_09_ASD_discovery_cases-AU022204
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
18446422
20079140
1632718
Unknown
Deletion
No
davis_09_ASD_discovery_cases-AU038303
NA
NA
Non-syndromic ASD
Diagnosis: Autism/spectrum on ADOS. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
18446422
20343286
1896864
Unknown
Duplication
No
davis_09_ASD_discovery_cases-AU038703
NA
NA
Non-syndromic ASD
Diagnosis: broad spectrum autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
18446422
20079140
1632718
Unknown
Deletion
No
davis_09_ASD_discovery_cases-AU057905
NA
NA
Non-syndromic ASD
Diagnosis: broad spectrum autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
18446422
20343286
1896864
Unknown
Duplication
No
davis_09_ASD_discovery_cases-AU067208
NA
NA
Syndromic ASD
Diagnosis: autism. Syndromic autism features: syndactyly
18427103
20089383
1662280
Unknown
Duplication
No
davis_09_ASD_discovery_cases-AU1105303
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
18427103
19407629
980526
Unknown
Deletion
No
depienne_09_ASD_discovery_cases-patient5
5
M
Autism
No language; no epielpsy, but abnormal EEG; hypotonia, motor delay; frequent respiratory infections during infancy; macrocephaly, retrognathia; normal brain MRI
Severe MR
254000
Unknown
Deletion
Yes
depienne_09_ASD_discovery_cases-patient6
13
F
Autism
No speech delay; no epilepsy; developmental coordination disorder, depression
Normal IQ
254000
Unknown
Deletion
Yes
depienne_09_ASD_discovery_cases-patient7
9
F
Autism
No speech delay; no epilepsy; ADHD combined type
Normal IQ
254000
Unknown
Deletion
Yes
depienne_09_ASD_discovery_cases-patient8
5
M
Autism
Functional language; epilepsy (onset 9 months); normal brain MRI
Severe MR
254000
Unknown
Duplication
Yes
depienne_09_ASD_discovery_cases-patient9
15
M
Autism
No language; 1 absence seizure at 11 yrs.; neonatal overgrowth, macrocephaly and increased height persist, long narrow hands & feet
Severe MR
254000
Unknown
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300525
N/A
M
Developmental delay/intellectual disability
22693148
23088545
395398
GRCh38
Deletion
Yes
doornbos_09_15q11.2_discovery_cases-case1
9 yrs.
M
ASD
Diagnosed with a mild form of autism. Mild motor delay, delayed speech development, unusual happy appearance. Normal growth parameters, dyspraxia & mild dysmorphic features (broad forehead, hypertelorism, dysmorphic ears, high palate, slender fingers); normal CT scan
Verbal IQ = 97, performance IQ = 102 (WISC-III) at 8 yrs.
22784509
23124432
339924
GRCh38
Deletion
Yes
doornbos_09_15q11.2_discovery_cases-case2
2.5 yrs.
M
Developmental delay
Delayed motor milestones & speech development. Good eye contact, no behavioral problems, unusual happy appearance. Feeding problems as infant. Normal growth parameters, dyspraxia, dysmorphic features (plagiocephaly, broad forehead, hypertelorism, dysmorphic ears, cleft palate). Tracheolaryngomalacia.
NA
22784509
23124432
339924
GRCh38
Deletion
Yes
doornbos_09_15q11.2_discovery_cases-case3
8 yrs.
M
OCD
Developed obsessive-compulsive behavior at 7 yrs. Mild motor development delay, speech development delay, quiet and shy behavior, hand flapping when agitated. Neonatal feeding problems. Recurrent infections. Normal growth parameters. Motor dyspraxia. Dysmorphic features (plagiocephaly, broad forehead, hypertelorism, dysmorphic ears, pectus excav, slender fingers)
IQ of 60 (WISC-III) at 6 yrs.
22784509
23124432
339924
GRCh38
Deletion
Yes
doornbos_09_15q11.2_discovery_cases-case4
15 yrs.
F
OCD
Obsessive-compulsive behavior, food craving, skin picking. Intra-uterine growth retardation. Feeding problems as an infant. Motor and speech development delay. Dyspraxia. Dysmorphic features: dysmorphic ears, narrow palate, pectus excav, slender fingers. Heart defect. Hearing impaired. Omphalocele, entropion, club feet. Normal height & head circumference, central obesity with slender arms & legs. Broad, insecure gait.
NA
22784509
23124432
339924
GRCh38
Deletion
Yes
doornbos_09_15q11.2_discovery_cases-case5
5 yrs.
M
ADHD
Hypotonia & feeding problems as an infant. Delayed motor & speech development. Behavioral difficulties with attention deficit. Convlusions. Normal growth parameters, some dysmorphic features (plagiocephaly, broad forehead, hypertelorism). Genital abnormalities, recurrent infections, 13 pairs of ribs.
IQ of 70-92 (WISC-III)
22784509
23124432
339924
GRCh38
Deletion
Yes
doornbos_09_15q11.2_discovery_cases-case6
21 yrs.
M
ASD
Diagnosed with a mild form of autism & ADHD. Delayed motor milestones and speech development. Exam at 21 yrs. showed normal growth parameters, normal neurological examination, and minor dysmorphic features (dysmorphic ears, slender fingers).
IQ of 55-75 (WISC-III) at 5 yrs.
22784509
23124432
339924
GRCh38
Deletion
Yes
doornbos_09_15q11.2_discovery_cases-case7
3 months
M
N/A
Heart defect. Normal growth parameters, normal psychomotor development, and no dysmorphic features at 3 months.
NA
22784509
23124432
339924
GRCh38
Deletion
Yes
doornbos_09_15q11.2_discovery_cases-case8
3 yrs.
M
ASD
Diagnosed with autism at 2 yrs 8 months. Mild motor delay, delayed speech development. Normal growth parameters. Plagiocephaly & broad forehead.
Non-verbal IQ estimated at 112.
22784509
23124432
339924
GRCh38
Deletion
Yes
doornbos_09_15q11.2_discovery_cases-case9
27 yrs.
F
ASD
Delayed general, motor, & speech development. Self-injurious behavior. Hypotonia & feeding problems at birth. Epilepsy. Intra-uterine growth retardation. Physical exam at 26 yrs.: short stature (-4 sd), microcpehaly (-5 sd), dysmorphic features (hypertelorism, dysmorphic ears, cleft palate, slender fingers). Dysplastic inner ear.
Moderate MR
22784509
23124432
339924
GRCh38
Deletion
Yes
du_21_ASD/DD/ID_discovery_cases-case453
6 yrs.
M
Developmental delay
Global developmental delay, hypopigmentation
22600362
23122763
522402
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14226_3600
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
23319714
23424164
104451
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16038_1571018001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
24109283
24422150
312868
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4163_100
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
24109283
24422150
312868
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5419_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
24059521
24109283
49763
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0000820
N/A
F
ASD
Family history: mother presents with anxiety and OCD; father negative for ASD, other mental health diagnoses unknown.
22810748
23037153
226406
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0023689
N/A
M
ASD
Family history: both parents are negative for ASD and unknown for other mental health diagnoses.
22810748
23037153
226406
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0038120
N/A
M
ASD
Family history: mother presents with anxiety, social anxiety, OCD and depression.
22812162
23037153
224992
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0040659
N/A
M
ASD
Family history: both parents negative for ASD; no mental health diagnoses reported for the mother (father unknown).
22810748
23037153
226406
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0042391
N/A
M
ASD
Family history: both parents negative for ASD; no mental health diagnoses reported for the mother (father unknown).
22810748
23037153
226406
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0046982
N/A
M
ASD
Family history: father presents with ASD, anxiety (social anxiety), and depression.
22810748
23037153
226406
GRCh38
Deletion
No
fry_16_DD/ID/EP/ASD_discovery_cases-caseR605
41 yrs.
M
Intellectual disability and epilepsy
Clinical features: intellectual disability, seizures. Age of seizure onset: <16 years. Epilepsy syndrome: unknown. Seizure types: unknown.
Intellectual disability
22600363
23226874
626512
GRCh38
Duplication
Yes
furley_24_ASD/ID_discovery_cases-case1
M
ASD and intellectual disability
Developmental regression at 12 months (speech and language regression), pre-existing diagnosis of autism.
Pre-existing diagnosis of ntellectual disability
22766000
23279840
513841
GRCh37
Deletion
No
furley_24_ASD/ID_discovery_cases-case4
M
ASD
Developmental regression at 15 months (gross motor regression, concurrent with illness), pre-existing diagnosis of autism.
22770994
23236972
465979
GRCh37
Deletion
No
gai_11_ASD_discovery_cases-AU1466304
Autism
24847119
24869979
22861
GRCh38
Deletion
No
gannon_11_ASD/DD_discovery_cases-patientN
ASD and/or DD
Dysmorphic features: unknown
IQ unknown
NA
NA
NA
Unknown
Deletion
No
gannon_11_ASD/DD_discovery_cases-patientO
ASD and/or DD
Dysmorphic features: unknown
IQ unknown
NA
NA
NA
Unknown
Duplication
No
girirajan_11_ASD_discovery_cases-Si1
12
M
Autism
ADOS score: 8. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 120; Non-verbal IQ, 126.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si1
12
M
Autism
ADOS score: 8. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 120; Non-verbal IQ, 126.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si10
7
M
Autism
ADOS score: 9. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 103; Non-verbal IQ, 100.
22097083
22290846
193764
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si10
7
M
Autism
ADOS score: 9. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 103; Non-verbal IQ, 100.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si100
17
M
Autism
ADOS score: 7. Vineland composite score: 83.
Moderate mental retardation/intellectual disability. Full-scale IQ, 43; Verbal IQ, 33; Non-verbal IQ, 63.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si101
7
M
Autism
ADOS score: 7. Vineland composite score: 66.
Severe mental retardation/intellectual disability. Full-scale IQ, 39; Verbal IQ, 30; Non-verbal IQ, 48.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si101
7
M
Autism
ADOS score: 7. Vineland composite score: 66.
Severe mental retardation/intellectual disability. Full-scale IQ, 39; Verbal IQ, 30; Non-verbal IQ, 48.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si102
9
M
Autism
ADOS score: 10. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 93; Non-verbal IQ, 92.
22133581
22290846
157266
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si102
9
M
Autism
ADOS score: 10. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 93; Non-verbal IQ, 92.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si102
9
M
Autism
ADOS score: 10. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 93; Non-verbal IQ, 92.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si103
8
M
Autism
ADOS score: 6. Vineland composite score: 106.
No mental retardation/intellectual disability. Full-scale IQ, 116; Verbal IQ, 103; Non-verbal IQ, 121.
22075724
22290846
215123
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si103
8
M
Autism
ADOS score: 6. Vineland composite score: 106.
No mental retardation/intellectual disability. Full-scale IQ, 116; Verbal IQ, 103; Non-verbal IQ, 121.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si104
11
M
Autism
ADOS score: 9. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 90; Non-verbal IQ, 88.
22137660
22272088
134429
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si104
11
M
Autism
ADOS score: 9. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 90; Non-verbal IQ, 88.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si104
11
M
Autism
ADOS score: 9. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 90; Non-verbal IQ, 88.
21985266
22043516
58251
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si106
17
M
Autism
ADOS score: 9. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 73; Verbal IQ, 52; Non-verbal IQ, 88.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si106
17
M
Autism
ADOS score: 9. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 73; Verbal IQ, 52; Non-verbal IQ, 88.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si108
8
F
Autism
ADOS score: 9. Vineland composite score: 87.
No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 98; Non-verbal IQ, 97.
22137660
22264497
126838
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si108
8
F
Autism
ADOS score: 9. Vineland composite score: 87.
No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 98; Non-verbal IQ, 97.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si109
8
M
Autism
ADOS score: 6. Vineland composite score: 62.
Mild mental retardation/intellectual disability. Full-scale IQ, 65; Verbal IQ, 79; Non-verbal IQ, 64.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si109
8
M
Autism
ADOS score: 6. Vineland composite score: 62.
Mild mental retardation/intellectual disability. Full-scale IQ, 65; Verbal IQ, 79; Non-verbal IQ, 64.
22137660
22199051
61392
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si11
10
F
Autism
ADOS score: 7. Vineland composite score: 77.
Mild mental retardation/intellectual disability. Full-scale IQ, 62; Verbal IQ, 67; Non-verbal IQ, 65.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si11
10
F
Autism
ADOS score: 7. Vineland composite score: 77.
Mild mental retardation/intellectual disability. Full-scale IQ, 62; Verbal IQ, 67; Non-verbal IQ, 65.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si110
6
M
Autism
ADOS score: 6. Vineland composite score: 88.
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 97; Non-verbal IQ, 111.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si110
6
M
Autism
ADOS score: 6. Vineland composite score: 88.
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 97; Non-verbal IQ, 111.
22137660
22188197
50538
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si111
8
M
Autism
ADOS score: 9. Vineland composite score: 88.
No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 75; Non-verbal IQ, 97.
21985266
22272088
286823
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si111
8
M
Autism
ADOS score: 9. Vineland composite score: 88.
No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 75; Non-verbal IQ, 97.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si113
8
F
Autism
ADOS score: 6. Vineland composite score: 94.
No mental retardation/intellectual disability. Full-scale IQ, 82; Verbal IQ, 81; Non-verbal IQ, 84.
21985266
22272088
286823
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si113
8
F
Autism
ADOS score: 6. Vineland composite score: 94.
No mental retardation/intellectual disability. Full-scale IQ, 82; Verbal IQ, 81; Non-verbal IQ, 84.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si114
11
F
Autism
ADOS score: 8. Vineland composite score: 96.
No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 119; Non-verbal IQ, 119.
22133581
22272088
138508
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si114
11
F
Autism
ADOS score: 8. Vineland composite score: 96.
No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 119; Non-verbal IQ, 119.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si114
11
F
Autism
ADOS score: 8. Vineland composite score: 96.
No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 119; Non-verbal IQ, 119.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si115
12
F
Autism
ADOS score: 7. Vineland composite score: 61.
Severe mental retardation/intellectual disability. Full-scale IQ, 40; Verbal IQ, 31; Non-verbal IQ, 45.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si116
7
M
Autism
ADOS score: 10. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 94; Verbal IQ, 88; Non-verbal IQ, 100.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si117
10
M
Autism
ADOS score: 9. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 86; Non-verbal IQ, 78.
22137660
22264497
126838
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si117
10
M
Autism
ADOS score: 9. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 86; Non-verbal IQ, 78.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si118
11
M
Autism
ADOS score: 8. Vineland composite score: 63.
Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 56; Non-verbal IQ, 76.
21985266
22266725
281460
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si119
9
M
Autism
ADOS score: 10. Vineland composite score: 84.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 86; Non-verbal IQ, 94.
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si119
9
M
Autism
ADOS score: 10. Vineland composite score: 84.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 86; Non-verbal IQ, 94.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si12
7
M
Autism
ADOS score: 8. Vineland composite score: 87.
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 99; Non-verbal IQ, 108.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si120
7
F
Autism
ADOS score: 10. Vineland composite score: 63.
No mental retardation/intellectual disability. Full-scale IQ, 72; Verbal IQ, 76; Non-verbal IQ, 75.
22057388
22272088
214701
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si120
7
F
Autism
ADOS score: 10. Vineland composite score: 63.
No mental retardation/intellectual disability. Full-scale IQ, 72; Verbal IQ, 76; Non-verbal IQ, 75.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si121
9
M
Autism
ADOS score: 5. Vineland composite score: 91.
No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 136; Non-verbal IQ, 110.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si121
9
M
Autism
ADOS score: 5. Vineland composite score: 91.
No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 136; Non-verbal IQ, 110.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si122
8
F
Autism
ADOS score: 6. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 122; Non-verbal IQ, 95.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si123
11
M
Autism
ADOS score: 7. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 73; Verbal IQ, 87; Non-verbal IQ, 68.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si123
11
M
Autism
ADOS score: 7. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 73; Verbal IQ, 87; Non-verbal IQ, 68.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si124
14
M
Autism
ADOS score: 6. Vineland composite score: 67.
No mental retardation/intellectual disability. Full-scale IQ, 94; Verbal IQ, 77; Non-verbal IQ, 105.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si124
14
M
Autism
ADOS score: 6. Vineland composite score: 67.
No mental retardation/intellectual disability. Full-scale IQ, 94; Verbal IQ, 77; Non-verbal IQ, 105.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si125
10
M
Autism
ADOS score: 8. Vineland composite score: 89.
No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 117; Non-verbal IQ, 111.
22003103
22290846
287744
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si126
6
M
Autism
ADOS score: 6. Vineland composite score: 65.
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 78; Non-verbal IQ, 85.
21985266
22133581
148316
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si127
7
M
Autism
ADOS score: 8. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 77; Non-verbal IQ, 90.
22097083
22290846
193764
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si127
7
M
Autism
ADOS score: 8. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 77; Non-verbal IQ, 90.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si127
7
M
Autism
ADOS score: 8. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 77; Non-verbal IQ, 90.
21985266
22079861
94596
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si128
8
M
Autism
ADOS score: 7. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 83; Non-verbal IQ, 98.
22027709
22133581
105873
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si129
6
M
Autism
ADOS score: 9. Vineland composite score: 77.
Mild mental retardation/intellectual disability. Full-scale IQ, 61; Verbal IQ, 58; Non-verbal IQ, 64.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si129
6
M
Autism
ADOS score: 9. Vineland composite score: 77.
Mild mental retardation/intellectual disability. Full-scale IQ, 61; Verbal IQ, 58; Non-verbal IQ, 64.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si130
11
M
Autism
ADOS score: 6. Vineland composite score: 68.
Mild mental retardation/intellectual disability. Full-scale IQ, 67; Verbal IQ, 54; Non-verbal IQ, 74.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si130
11
M
Autism
ADOS score: 6. Vineland composite score: 68.
Mild mental retardation/intellectual disability. Full-scale IQ, 67; Verbal IQ, 54; Non-verbal IQ, 74.
22045190
22133581
88392
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si131
10
M
Autism
ADOS score: 10. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 82; Non-verbal IQ, 74.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si131
10
M
Autism
ADOS score: 10. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 82; Non-verbal IQ, 74.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si132
16
F
Autism
ADOS score: NA. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 117; Non-verbal IQ, 113.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si132
16
F
Autism
ADOS score: NA. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 117; Non-verbal IQ, 113.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si133
12
F
Autism
ADOS score: 9. Vineland composite score: 67.
Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 39; Non-verbal IQ, 59.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si133
12
F
Autism
ADOS score: 9. Vineland composite score: 67.
Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 39; Non-verbal IQ, 59.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si135
13
M
Autism
ADOS score: 5. Vineland composite score: 88.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 108; Non-verbal IQ, 93.
21985266
22043516
58251
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si136
8
M
Autism
ADOS score: 6. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 75; Non-verbal IQ, 95.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si136
8
M
Autism
ADOS score: 6. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 75; Non-verbal IQ, 95.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si137
13
M
Autism
ADOS score: 10. Vineland composite score: 74.
Moderate mental retardation/intellectual disability. Full-scale IQ, 55; Verbal IQ, 39; Non-verbal IQ, 71.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si137
13
M
Autism
ADOS score: 10. Vineland composite score: 74.
Moderate mental retardation/intellectual disability. Full-scale IQ, 55; Verbal IQ, 39; Non-verbal IQ, 71.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si138
9
M
Autism
ADOS score: 9. Vineland composite score: 69.
Mild mental retardation/intellectual disability. Full-scale IQ, 65; Verbal IQ, 59; Non-verbal IQ, 74.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si138
9
M
Autism
ADOS score: 9. Vineland composite score: 69.
Mild mental retardation/intellectual disability. Full-scale IQ, 65; Verbal IQ, 59; Non-verbal IQ, 74.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si139
12
M
Autism
ADOS score: 8. Vineland composite score: 69.
Moderate mental retardation/intellectual disability. Full-scale IQ, 50; Verbal IQ, 62; Non-verbal IQ, 44.
22120193
22287942
167750
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si139
12
M
Autism
ADOS score: 8. Vineland composite score: 69.
Moderate mental retardation/intellectual disability. Full-scale IQ, 50; Verbal IQ, 62; Non-verbal IQ, 44.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si14
8
M
Autism
ADOS score: 5. Vineland composite score: 60.
Severe mental retardation/intellectual disability. Full-scale IQ, 38; Verbal IQ, 31; Non-verbal IQ, 44.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si14
8
M
Autism
ADOS score: 5. Vineland composite score: 60.
Severe mental retardation/intellectual disability. Full-scale IQ, 38; Verbal IQ, 31; Non-verbal IQ, 44.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si140
12
M
Autism
ADOS score: 10. Vineland composite score: 64.
No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 84; Non-verbal IQ, 71.
22075724
22290846
215123
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si140
12
M
Autism
ADOS score: 10. Vineland composite score: 64.
No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 84; Non-verbal IQ, 71.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si140
12
M
Autism
ADOS score: 10. Vineland composite score: 64.
No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 84; Non-verbal IQ, 71.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si141
10
F
Autism
ADOS score: 6. Vineland composite score: 85.
No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 77; Non-verbal IQ, 80.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si141
10
F
Autism
ADOS score: 6. Vineland composite score: 85.
No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 77; Non-verbal IQ, 80.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si142
6
M
Autism
ADOS score: 4. Vineland composite score: 90.
No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 117; Non-verbal IQ, 99.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si142
6
M
Autism
ADOS score: 4. Vineland composite score: 90.
No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 117; Non-verbal IQ, 99.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si143
10
M
Autism
ADOS score: 4. Vineland composite score: 84.
No mental retardation/intellectual disability. Full-scale IQ, 117; Verbal IQ, 108; Non-verbal IQ, 119.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si143
10
M
Autism
ADOS score: 4. Vineland composite score: 84.
No mental retardation/intellectual disability. Full-scale IQ, 117; Verbal IQ, 108; Non-verbal IQ, 119.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si144
10
M
Autism
ADOS score: 10. Vineland composite score: 71.
No mental retardation/intellectual disability. Full-scale IQ, 92; Verbal IQ, 82; Non-verbal IQ, 96.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si146
18
M
Autism
ADOS score: 8. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 73; Non-verbal IQ, 95.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si146
18
M
Autism
ADOS score: 8. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 73; Non-verbal IQ, 95.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si148
6
F
Autism
ADOS score: 5. Vineland composite score: 87.
No mental retardation/intellectual disability. Full-scale IQ, 103; Verbal IQ, 107; Non-verbal IQ, 100.
22137660
22263283
125624
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si148
6
F
Autism
ADOS score: 5. Vineland composite score: 87.
No mental retardation/intellectual disability. Full-scale IQ, 103; Verbal IQ, 107; Non-verbal IQ, 100.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si149
13
M
Autism
ADOS score: 8. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 131; Non-verbal IQ, 112.
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si15
14
M
Autism
ADOS score: 4. Vineland composite score: 84.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 86; Non-verbal IQ, 109.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si15
14
M
Autism
ADOS score: 4. Vineland composite score: 84.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 86; Non-verbal IQ, 109.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si150
9
M
Autism
ADOS score: NA. Vineland composite score: NA.
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si150
9
M
Autism
ADOS score: NA. Vineland composite score: NA.
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si151
8
F
Autism
ADOS score: 7. Vineland composite score: 50.
Severe mental retardation/intellectual disability. Full-scale IQ, 30; Verbal IQ, 18; Non-verbal IQ, 42.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si151
8
F
Autism
ADOS score: 7. Vineland composite score: 50.
Severe mental retardation/intellectual disability. Full-scale IQ, 30; Verbal IQ, 18; Non-verbal IQ, 42.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si152
12
M
Autism
ADOS score: 9. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 94.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si152
12
M
Autism
ADOS score: 9. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 94.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si154
7
M
Autism
ADOS score: NA. Vineland composite score: NA.
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
22097083
22290846
193764
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si154
7
M
Autism
ADOS score: NA. Vineland composite score: NA.
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
21985266
22079861
94596
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si155
13
M
Autism
ADOS score: 8. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 103; Verbal IQ, 120; Non-verbal IQ, 93.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si156
10
F
Autism
ADOS score: 5. Vineland composite score: 67.
Moderate mental retardation/intellectual disability. Full-scale IQ, 54; Verbal IQ, 62; Non-verbal IQ, 55.
22137660
22270538
132879
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si158
11
M
Autism
ADOS score: 10. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 83; Non-verbal IQ, 94.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si158
11
M
Autism
ADOS score: 10. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 83; Non-verbal IQ, 94.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si159
14
F
Autism
ADOS score: 6. Vineland composite score: 55.
Severe mental retardation/intellectual disability. Full-scale IQ, 28; Verbal IQ, 19; Non-verbal IQ, 32.
22137660
22272088
134429
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si16
11
M
Autism
ADOS score: 10. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 108; Non-verbal IQ, 100.
22003103
22290846
287744
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si16
11
M
Autism
ADOS score: 10. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 108; Non-verbal IQ, 100.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si161
17
F
Autism
ADOS score: 6. Vineland composite score: 61.
No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 80; Non-verbal IQ, 74.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si161
17
F
Autism
ADOS score: 6. Vineland composite score: 61.
No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 80; Non-verbal IQ, 74.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si162
7
M
Autism
ADOS score: 7. Vineland composite score: 64.
Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 38; Non-verbal IQ, 56.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si162
7
M
Autism
ADOS score: 7. Vineland composite score: 64.
Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 38; Non-verbal IQ, 56.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si163
8
M
Autism
ADOS score: 7. Vineland composite score: 63.
Moderate mental retardation/intellectual disability. Full-scale IQ, 46; Verbal IQ, 47; Non-verbal IQ, 49.
22137660
22286774
149115
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si163
8
M
Autism
ADOS score: 7. Vineland composite score: 63.
Moderate mental retardation/intellectual disability. Full-scale IQ, 46; Verbal IQ, 47; Non-verbal IQ, 49.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si164
8
M
Autism
ADOS score: 9. Vineland composite score: 59.
Severe mental retardation/intellectual disability. Full-scale IQ, 33; Verbal IQ, 22; Non-verbal IQ, 43.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si166
11
F
Autism
ADOS score: 8. Vineland composite score: 67.
Severe mental retardation/intellectual disability. Full-scale IQ, 40; Verbal IQ, 30; Non-verbal IQ, 45.
22137660
22272088
134429
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si166
11
F
Autism
ADOS score: 8. Vineland composite score: 67.
Severe mental retardation/intellectual disability. Full-scale IQ, 40; Verbal IQ, 30; Non-verbal IQ, 45.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si167
15
M
Autism
ADOS score: 8. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 130; Verbal IQ, 128; Non-verbal IQ, 118.
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si167
15
M
Autism
ADOS score: 8. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 130; Verbal IQ, 128; Non-verbal IQ, 118.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si168
19
M
Autism
ADOS score: NA. Vineland composite score: 65.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 104; Non-verbal IQ, 84.
22133581
22272088
138508
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si168
19
M
Autism
ADOS score: NA. Vineland composite score: 65.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 104; Non-verbal IQ, 84.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si169
9
F
Autism
ADOS score: 10. Vineland composite score: 57.
Mild mental retardation/intellectual disability. Full-scale IQ, 57; Verbal IQ, 65; Non-verbal IQ, 60.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si17
9
M
Autism
ADOS score: 7. Vineland composite score: 91.
No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 102; Non-verbal IQ, 100.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si17
9
M
Autism
ADOS score: 7. Vineland composite score: 91.
No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 102; Non-verbal IQ, 100.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si170
18
M
Autism
ADOS score: NA. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 128; Non-verbal IQ, 97.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si170
18
M
Autism
ADOS score: NA. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 128; Non-verbal IQ, 97.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si171
17
F
Autism
ADOS score: 10. Vineland composite score: 67.
Mild mental retardation/intellectual disability. Full-scale IQ, 64; Verbal IQ, 63; Non-verbal IQ, 66.
22057388
22272088
214701
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si171
17
F
Autism
ADOS score: 10. Vineland composite score: 67.
Mild mental retardation/intellectual disability. Full-scale IQ, 64; Verbal IQ, 63; Non-verbal IQ, 66.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si171
17
F
Autism
ADOS score: 10. Vineland composite score: 67.
Mild mental retardation/intellectual disability. Full-scale IQ, 64; Verbal IQ, 63; Non-verbal IQ, 66.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si172
12
M
Autism
ADOS score: 9. Vineland composite score: 84.
No mental retardation/intellectual disability. Full-scale IQ, 148; Verbal IQ, 113; Non-verbal IQ, 158.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si172
12
M
Autism
ADOS score: 9. Vineland composite score: 84.
No mental retardation/intellectual disability. Full-scale IQ, 148; Verbal IQ, 113; Non-verbal IQ, 158.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si173
10
M
Autism
ADOS score: 7. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 67; Non-verbal IQ, 82.
22137660
22287942
150283
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si173
10
M
Autism
ADOS score: 7. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 67; Non-verbal IQ, 82.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si174
9
M
Autism
ADOS score: 7. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 104; Non-verbal IQ, 104.
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si174
9
M
Autism
ADOS score: 7. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 104; Non-verbal IQ, 104.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si174
9
M
Autism
ADOS score: 7. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 104; Non-verbal IQ, 104.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si175
16
F
Autism
ADOS score: 5. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 105; Non-verbal IQ, 105.
22137660
22272088
134429
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si175
16
F
Autism
ADOS score: 5. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 105; Non-verbal IQ, 105.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si176
14
M
Autism
ADOS score: 9. Vineland composite score: 52.
Severe mental retardation/intellectual disability. Full-scale IQ, 26; Verbal IQ, 20; Non-verbal IQ, 29.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si176
14
M
Autism
ADOS score: 9. Vineland composite score: 52.
Severe mental retardation/intellectual disability. Full-scale IQ, 26; Verbal IQ, 20; Non-verbal IQ, 29.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si177
10
M
Autism
ADOS score: 8. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 96; Non-verbal IQ, 75.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si177
10
M
Autism
ADOS score: 8. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 96; Non-verbal IQ, 75.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si178
7
M
Autism
ADOS score: 9. Vineland composite score: 70.
Mild mental retardation/intellectual disability. Full-scale IQ, 62; Verbal IQ, 64; Non-verbal IQ, 67.
22137660
22266725
129066
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si178
7
M
Autism
ADOS score: 9. Vineland composite score: 70.
Mild mental retardation/intellectual disability. Full-scale IQ, 62; Verbal IQ, 64; Non-verbal IQ, 67.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si179
10
M
Autism
ADOS score: 5. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 103; Verbal IQ, 94; Non-verbal IQ, 108.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si179
10
M
Autism
ADOS score: 5. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 103; Verbal IQ, 94; Non-verbal IQ, 108.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si18
13
M
Autism
ADOS score: 9. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 106; Non-verbal IQ, 91.
22137660
22286774
149115
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si18
13
M
Autism
ADOS score: 9. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 106; Non-verbal IQ, 91.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si180
19
M
Autism
ADOS score: NA. Vineland composite score: 73.
No mental retardation/intellectual disability. Full-scale IQ, 111; Verbal IQ, 129; Non-verbal IQ, 100.
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si180
19
M
Autism
ADOS score: NA. Vineland composite score: 73.
No mental retardation/intellectual disability. Full-scale IQ, 111; Verbal IQ, 129; Non-verbal IQ, 100.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si180
19
M
Autism
ADOS score: NA. Vineland composite score: 73.
No mental retardation/intellectual disability. Full-scale IQ, 111; Verbal IQ, 129; Non-verbal IQ, 100.
21985266
22079861
94596
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si181
11
M
Autism
ADOS score: 10. Vineland composite score: 70.
No mental retardation/intellectual disability. Full-scale IQ, 84; Verbal IQ, 75; Non-verbal IQ, 92.
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si181
11
M
Autism
ADOS score: 10. Vineland composite score: 70.
No mental retardation/intellectual disability. Full-scale IQ, 84; Verbal IQ, 75; Non-verbal IQ, 92.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si181
11
M
Autism
ADOS score: 10. Vineland composite score: 70.
No mental retardation/intellectual disability. Full-scale IQ, 84; Verbal IQ, 75; Non-verbal IQ, 92.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si182
9
M
Autism
ADOS score: 8. Vineland composite score: 62.
No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 60; Non-verbal IQ, 92.
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si182
9
M
Autism
ADOS score: 8. Vineland composite score: 62.
No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 60; Non-verbal IQ, 92.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si182
9
M
Autism
ADOS score: 8. Vineland composite score: 62.
No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 60; Non-verbal IQ, 92.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si183
13
M
Autism
ADOS score: 7. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 73; Non-verbal IQ, 102.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si183
13
M
Autism
ADOS score: 7. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 73; Non-verbal IQ, 102.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si184
10
M
Autism
ADOS score: 10. Vineland composite score: 70.
No mental retardation/intellectual disability. Full-scale IQ, 94; Verbal IQ, 77; Non-verbal IQ, 105.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si185
11
M
Autism
ADOS score: 6. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 89; Non-verbal IQ, 90.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si186
11
M
Autism
ADOS score: 5. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 86; Non-verbal IQ, 78.
24110224
24225794
115571
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si187
9
M
Autism
ADOS score: 8. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 87; Verbal IQ, 74; Non-verbal IQ, 105.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si188
9
M
Autism
ADOS score: 7. Vineland composite score: 91.
No mental retardation/intellectual disability. Full-scale IQ, 135; Verbal IQ, 134; Non-verbal IQ, 128.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si188
9
M
Autism
ADOS score: 7. Vineland composite score: 91.
No mental retardation/intellectual disability. Full-scale IQ, 135; Verbal IQ, 134; Non-verbal IQ, 128.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si189
9
F
Autism
ADOS score: 10. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 99; Non-verbal IQ, 119.
22133581
22270538
136958
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si19
8
M
Autism
ADOS score: 6. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 101; Non-verbal IQ, 95.
22018738
22133581
114844
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si190
9
M
Autism
ADOS score: 7. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 96; Non-verbal IQ, 72.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si190
9
M
Autism
ADOS score: 7. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 96; Non-verbal IQ, 72.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si191
12
M
Autism
ADOS score: 7. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 102; Verbal IQ, 108; Non-verbal IQ, 102.
21985266
22092727
107462
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si192
7
M
Autism
ADOS score: 6. Vineland composite score: 85.
No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 60; Non-verbal IQ, 94.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si193
8
M
Autism
ADOS score: 8. Vineland composite score: 86.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 84; Non-verbal IQ, 106.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si194
9
M
Autism
ADOS score: 10. Vineland composite score: 70.
No mental retardation/intellectual disability. Full-scale IQ, 92; Verbal IQ, 104; Non-verbal IQ, 87.
21985266
22287942
302677
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si194
9
M
Autism
ADOS score: 10. Vineland composite score: 70.
No mental retardation/intellectual disability. Full-scale IQ, 92; Verbal IQ, 104; Non-verbal IQ, 87.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si196
17
M
Autism
ADOS score: NA. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 118; Verbal IQ, 116; Non-verbal IQ, 117.
19080050
19423573
343523
NCBI36
Deletion
No
girirajan_11_ASD_discovery_cases-Si197
15
M
Autism
ADOS score: 9. Vineland composite score: 57.
Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 35; Non-verbal IQ, 34.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si197
15
M
Autism
ADOS score: 9. Vineland composite score: 57.
Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 35; Non-verbal IQ, 34.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si198
10
M
Autism
ADOS score: 7. Vineland composite score: 103.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 105; Non-verbal IQ, 103.
22057388
22286774
229387
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si198
10
M
Autism
ADOS score: 7. Vineland composite score: 103.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 105; Non-verbal IQ, 103.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si198
10
M
Autism
ADOS score: 7. Vineland composite score: 103.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 105; Non-verbal IQ, 103.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si199
9
M
Autism
ADOS score: 6. Vineland composite score: NA.
No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 101; Non-verbal IQ, 109.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si2
11
F
Autism
ADOS score: 8. Vineland composite score: 79.
No mental retardation/intellectual disability. Full-scale IQ, 84; Verbal IQ, 95; Non-verbal IQ, 81.
22120193
22187045
66853
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si20
12
M
Autism
ADOS score: 7. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 123; Non-verbal IQ, 101.
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si20
12
M
Autism
ADOS score: 7. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 123; Non-verbal IQ, 101.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si200
10
M
Autism
ADOS score: 8. Vineland composite score: 91.
Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 44; Non-verbal IQ, 63.
22075724
22243304
167581
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si200
10
M
Autism
ADOS score: 8. Vineland composite score: 91.
Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 44; Non-verbal IQ, 63.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si200
10
M
Autism
ADOS score: 8. Vineland composite score: 91.
Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 44; Non-verbal IQ, 63.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si201
8
M
Autism
ADOS score: 10. Vineland composite score: 64.
Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 47; Non-verbal IQ, 61.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si202
14
M
Autism
ADOS score: 4. Vineland composite score: 84.
No mental retardation/intellectual disability. Full-scale IQ, 120; Verbal IQ, 123; Non-verbal IQ, 115.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si202
14
M
Autism
ADOS score: 4. Vineland composite score: 84.
No mental retardation/intellectual disability. Full-scale IQ, 120; Verbal IQ, 123; Non-verbal IQ, 115.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si203
7
M
Autism
ADOS score: 7. Vineland composite score: 79.
No mental retardation/intellectual disability. Full-scale IQ, 71; Verbal IQ, 73; Non-verbal IQ, 75.
22076279
22287942
211664
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si203
7
M
Autism
ADOS score: 7. Vineland composite score: 79.
No mental retardation/intellectual disability. Full-scale IQ, 71; Verbal IQ, 73; Non-verbal IQ, 75.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si206
13
M
Autism
ADOS score: 8. Vineland composite score: 101.
No mental retardation/intellectual disability. Full-scale IQ, 119; Verbal IQ, 114; Non-verbal IQ, 119.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si206
13
M
Autism
ADOS score: 8. Vineland composite score: 101.
No mental retardation/intellectual disability. Full-scale IQ, 119; Verbal IQ, 114; Non-verbal IQ, 119.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si207
7
M
Autism
ADOS score: 7. Vineland composite score: 91.
No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 113; Non-verbal IQ, 111.
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si207
7
M
Autism
ADOS score: 7. Vineland composite score: 91.
No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 113; Non-verbal IQ, 111.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si207
7
M
Autism
ADOS score: 7. Vineland composite score: 91.
No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 113; Non-verbal IQ, 111.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si209
13
M
Autism
ADOS score: 6. Vineland composite score: 90.
No mental retardation/intellectual disability. Full-scale IQ, 129; Verbal IQ, 120; Non-verbal IQ, 128.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si209
13
M
Autism
ADOS score: 6. Vineland composite score: 90.
No mental retardation/intellectual disability. Full-scale IQ, 129; Verbal IQ, 120; Non-verbal IQ, 128.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si21
9
F
Autism
ADOS score: 10. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 77; Non-verbal IQ, 85.
21985266
22287942
302677
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si21
9
F
Autism
ADOS score: 10. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 77; Non-verbal IQ, 85.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si210
16
M
Autism
ADOS score: 8. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 95; Non-verbal IQ, 87.
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si210
16
M
Autism
ADOS score: 8. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 95; Non-verbal IQ, 87.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si219
9
M
Autism
ADOS score: 8. Vineland composite score: 101.
No mental retardation/intellectual disability. Full-scale IQ, 129; Verbal IQ, 118; Non-verbal IQ, 128.
21985266
22272088
286823
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si22
6
M
Autism
ADOS score: 8. Vineland composite score: 89.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 104; Non-verbal IQ, 111.
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si220
8
M
Autism
ADOS score: 8. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 95; Non-verbal IQ, 89.
22133581
22286774
153194
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si220
8
M
Autism
ADOS score: 8. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 95; Non-verbal IQ, 89.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si220
8
M
Autism
ADOS score: 8. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 95; Non-verbal IQ, 89.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si221
10
M
Autism
ADOS score: 6. Vineland composite score: 92.
No mental retardation/intellectual disability. Full-scale IQ, 84; Verbal IQ, 76; Non-verbal IQ, 91.
21985266
22286774
301509
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si221
10
M
Autism
ADOS score: 6. Vineland composite score: 92.
No mental retardation/intellectual disability. Full-scale IQ, 84; Verbal IQ, 76; Non-verbal IQ, 91.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si222
16
F
Autism
ADOS score: 10. Vineland composite score: 45.
Severe mental retardation/intellectual disability. Full-scale IQ, 37; Verbal IQ, 46; Non-verbal IQ, 19.
22137660
22266725
129066
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si224
11
M
Autism
ADOS score: 10. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 69; Non-verbal IQ, 88.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si224
11
M
Autism
ADOS score: 10. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 69; Non-verbal IQ, 88.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si225
11
F
Autism
ADOS score: 8. Vineland composite score: 69.
Moderate mental retardation/intellectual disability. Full-scale IQ, 42; Verbal IQ, 30; Non-verbal IQ, 49.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si225
11
F
Autism
ADOS score: 8. Vineland composite score: 69.
Moderate mental retardation/intellectual disability. Full-scale IQ, 42; Verbal IQ, 30; Non-verbal IQ, 49.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si226
12
M
Autism
ADOS score: 4. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 91; Non-verbal IQ, 112.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si226
12
M
Autism
ADOS score: 4. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 91; Non-verbal IQ, 112.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si227
7
M
Autism
ADOS score: 8. Vineland composite score: 63.
Moderate mental retardation/intellectual disability. Full-scale IQ, 46; Verbal IQ, 38; Non-verbal IQ, 57.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si227
7
M
Autism
ADOS score: 8. Vineland composite score: 63.
Moderate mental retardation/intellectual disability. Full-scale IQ, 46; Verbal IQ, 38; Non-verbal IQ, 57.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si228
10
M
Autism
ADOS score: 10. Vineland composite score: 96.
No mental retardation/intellectual disability. Full-scale IQ, 99; Verbal IQ, 89; Non-verbal IQ, 107.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si229
11
F
Autism
ADOS score: 9. Vineland composite score: 69.
Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 45; Non-verbal IQ, 67.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si229
11
F
Autism
ADOS score: 9. Vineland composite score: 69.
Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 45; Non-verbal IQ, 67.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si23
9
M
Autism
ADOS score: 5. Vineland composite score: 96.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 105; Non-verbal IQ, 110.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si23
9
M
Autism
ADOS score: 5. Vineland composite score: 96.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 105; Non-verbal IQ, 110.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si230
18
M
Autism
ADOS score: NA. Vineland composite score: 75.
Mild mental retardation/intellectual disability. Full-scale IQ, 63; Verbal IQ, 70; Non-verbal IQ, 60.
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si230
18
M
Autism
ADOS score: NA. Vineland composite score: 75.
Mild mental retardation/intellectual disability. Full-scale IQ, 63; Verbal IQ, 70; Non-verbal IQ, 60.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si231
9
M
Autism
ADOS score: 6. Vineland composite score: 93.
No mental retardation/intellectual disability. Full-scale IQ, 117; Verbal IQ, 111; Non-verbal IQ, 117.
22097083
22290846
193764
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si231
9
M
Autism
ADOS score: 6. Vineland composite score: 93.
No mental retardation/intellectual disability. Full-scale IQ, 117; Verbal IQ, 111; Non-verbal IQ, 117.
22010337
22079861
69525
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si232
7
M
Autism
ADOS score: 8. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 88; Non-verbal IQ, 71.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si232
7
M
Autism
ADOS score: 8. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 88; Non-verbal IQ, 71.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si233
10
M
Autism
ADOS score: 7. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 85; Non-verbal IQ, 114.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si233
10
M
Autism
ADOS score: 7. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 85; Non-verbal IQ, 114.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si234
13
M
Autism
ADOS score: 8. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 133; Verbal IQ, 121; Non-verbal IQ, 132.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si235
10
M
Autism
ADOS score: 9. Vineland composite score: 95.
No mental retardation/intellectual disability. Full-scale IQ, 113; Verbal IQ, 99; Non-verbal IQ, 119.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si235
10
M
Autism
ADOS score: 9. Vineland composite score: 95.
No mental retardation/intellectual disability. Full-scale IQ, 113; Verbal IQ, 99; Non-verbal IQ, 119.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si236
13
M
Autism
ADOS score: 7. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 98; Non-verbal IQ, 102.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si236
13
M
Autism
ADOS score: 7. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 98; Non-verbal IQ, 102.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si237
13
M
Autism
ADOS score: 6. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 102; Verbal IQ, 104; Non-verbal IQ, 108.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si237
13
M
Autism
ADOS score: 6. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 102; Verbal IQ, 104; Non-verbal IQ, 108.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si238
10
M
Autism
ADOS score: 8. Vineland composite score: 71.
Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 63; Non-verbal IQ, 76.
22076279
22290846
214568
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si238
10
M
Autism
ADOS score: 8. Vineland composite score: 71.
Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 63; Non-verbal IQ, 76.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si238
10
M
Autism
ADOS score: 8. Vineland composite score: 71.
Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 63; Non-verbal IQ, 76.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si239
8
M
Autism
ADOS score: 4. Vineland composite score: 79.
No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 118; Non-verbal IQ, 129.
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si239
8
M
Autism
ADOS score: 4. Vineland composite score: 79.
No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 118; Non-verbal IQ, 129.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si239
8
M
Autism
ADOS score: 4. Vineland composite score: 79.
No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 118; Non-verbal IQ, 129.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si243
12
M
Autism
ADOS score: 10. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 83; Non-verbal IQ, 96.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si244
17
M
Autism
ADOS score: 9. Vineland composite score: 58.
No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 102; Non-verbal IQ, 110.
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si244
17
M
Autism
ADOS score: 9. Vineland composite score: 58.
No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 102; Non-verbal IQ, 110.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si244
17
M
Autism
ADOS score: 9. Vineland composite score: 58.
No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 102; Non-verbal IQ, 110.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si245
10
M
Autism
ADOS score: 6. Vineland composite score: 72.
Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 55; Non-verbal IQ, 67.
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si245
10
M
Autism
ADOS score: 6. Vineland composite score: 72.
Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 55; Non-verbal IQ, 67.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si245
10
M
Autism
ADOS score: 6. Vineland composite score: 72.
Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 55; Non-verbal IQ, 67.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si247
13
M
Autism
ADOS score: 6. Vineland composite score: 57.
No mental retardation/intellectual disability. Full-scale IQ, 76; Verbal IQ, 46; Non-verbal IQ, 93.
21985266
22054329
69064
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si249
11
M
Autism
ADOS score: 6. Vineland composite score: 85.
No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 95; Non-verbal IQ, 89.
22137660
22286774
149115
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si249
11
M
Autism
ADOS score: 6. Vineland composite score: 85.
No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 95; Non-verbal IQ, 89.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si25
13
M
Autism
ADOS score: 7. Vineland composite score: 61.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 90; Non-verbal IQ, 84.
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si25
13
M
Autism
ADOS score: 7. Vineland composite score: 61.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 90; Non-verbal IQ, 84.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si250
15
M
Autism
ADOS score: 6. Vineland composite score: 66.
Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 60; Non-verbal IQ, 39.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si250
15
M
Autism
ADOS score: 6. Vineland composite score: 66.
Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 60; Non-verbal IQ, 39.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si253
12
M
Autism
ADOS score: 6. Vineland composite score: 64.
Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 30; Non-verbal IQ, 36.
22137660
22272088
134429
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si254
12
F
Autism
ADOS score: 6. Vineland composite score: 54.
Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 27; Non-verbal IQ, 34.
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si254
12
F
Autism
ADOS score: 6. Vineland composite score: 54.
Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 27; Non-verbal IQ, 34.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si254
12
F
Autism
ADOS score: 6. Vineland composite score: 54.
Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 27; Non-verbal IQ, 34.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si255
6
M
Autism
ADOS score: 5. Vineland composite score: 88.
No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 99; Non-verbal IQ, 101.
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si255
6
M
Autism
ADOS score: 5. Vineland composite score: 88.
No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 99; Non-verbal IQ, 101.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si256
14
F
Autism
ADOS score: 4. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 113; Verbal IQ, 107; Non-verbal IQ, 114.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si256
14
F
Autism
ADOS score: 4. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 113; Verbal IQ, 107; Non-verbal IQ, 114.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si258
12
M
Autism
ADOS score: 6. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 80; Non-verbal IQ, 74.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si260
14
F
Autism
ADOS score: 10. Vineland composite score: 43.
Severe mental retardation/intellectual disability. Full-scale IQ, 30; Verbal IQ, 21; Non-verbal IQ, 34.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si260
14
F
Autism
ADOS score: 10. Vineland composite score: 43.
Severe mental retardation/intellectual disability. Full-scale IQ, 30; Verbal IQ, 21; Non-verbal IQ, 34.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si261
11
M
Autism
ADOS score: 8. Vineland composite score: 80.
Mild mental retardation/intellectual disability. Full-scale IQ, 69; Verbal IQ, 67; Non-verbal IQ, 73.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si262
9
M
Autism
ADOS score: NA. Vineland composite score: NA.
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si262
9
M
Autism
ADOS score: NA. Vineland composite score: NA.
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si263
11
M
Autism
ADOS score: 6. Vineland composite score: 79.
No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 121; Non-verbal IQ, 117.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si263
11
M
Autism
ADOS score: 6. Vineland composite score: 79.
No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 121; Non-verbal IQ, 117.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si264
8
M
Autism
ADOS score: 7. Vineland composite score: 51.
Severe mental retardation/intellectual disability. Full-scale IQ, 36; Verbal IQ, 32; Non-verbal IQ, 40.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si264
8
M
Autism
ADOS score: 7. Vineland composite score: 51.
Severe mental retardation/intellectual disability. Full-scale IQ, 36; Verbal IQ, 32; Non-verbal IQ, 40.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si267
11
M
Autism
ADOS score: 7. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 91; Non-verbal IQ, 89.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si270
12
M
Autism
ADOS score: 6. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 96; Non-verbal IQ, 109.
22137660
22243304
105645
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si273
14
M
Autism
ADOS score: 7. Vineland composite score: 54.
Severe mental retardation/intellectual disability. Full-scale IQ, 35; Verbal IQ, 26; Non-verbal IQ, 39.
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si273
14
M
Autism
ADOS score: 7. Vineland composite score: 54.
Severe mental retardation/intellectual disability. Full-scale IQ, 35; Verbal IQ, 26; Non-verbal IQ, 39.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si273
14
M
Autism
ADOS score: 7. Vineland composite score: 54.
Severe mental retardation/intellectual disability. Full-scale IQ, 35; Verbal IQ, 26; Non-verbal IQ, 39.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si274
10
M
Autism
ADOS score: 4. Vineland composite score: 88.
No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 75; Non-verbal IQ, 83.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si274
10
M
Autism
ADOS score: 4. Vineland composite score: 88.
No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 75; Non-verbal IQ, 83.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si275
15
M
Autism
ADOS score: 7. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 118; Verbal IQ, 130; Non-verbal IQ, 109.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si276
10
M
Autism
ADOS score: 8. Vineland composite score: 79.
No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 79; Non-verbal IQ, 98.
21985266
22265901
280636
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si276
10
M
Autism
ADOS score: 8. Vineland composite score: 79.
No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 79; Non-verbal IQ, 98.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si279
19
M
Autism
ADOS score: NA. Vineland composite score: 64.
No mental retardation/intellectual disability. Full-scale IQ, 111; Verbal IQ, 128; Non-verbal IQ, 101.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si280
15
M
Autism
ADOS score: 6. Vineland composite score: 67.
No mental retardation/intellectual disability. Full-scale IQ, 82; Verbal IQ, 84; Non-verbal IQ, 83.
22077195
22266725
189531
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si287
9
M
Autism
ADOS score: 8. Vineland composite score: 72.
Mild mental retardation/intellectual disability. Full-scale IQ, 57; Verbal IQ, 40; Non-verbal IQ, 74.
22079861
22290846
210986
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si288
12
M
Autism
ADOS score: 9. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 93; Non-verbal IQ, 83.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si288
12
M
Autism
ADOS score: 9. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 93; Non-verbal IQ, 83.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si289
9
M
Autism
ADOS score: 7. Vineland composite score: 84.
No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 88; Non-verbal IQ, 91.
22029260
22095282
66023
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si29
8
F
Autism
ADOS score: 6. Vineland composite score: 83.
No mental retardation/intellectual disability. Full-scale IQ, 110; Verbal IQ, 105; Non-verbal IQ, 111.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si290
8
M
Autism
ADOS score: 6. Vineland composite score: 64.
No mental retardation/intellectual disability. Full-scale IQ, 94; Verbal IQ, 93; Non-verbal IQ, 97.
22120193
22208003
87811
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si293
10
M
Autism
ADOS score: 7. Vineland composite score: 88.
No mental retardation/intellectual disability. Full-scale IQ, 129; Verbal IQ, 107; Non-verbal IQ, 134.
22137660
22266725
129066
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si295
19
F
Autism
ADOS score: NA. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 123; Verbal IQ, 140; Non-verbal IQ, 109.
22137660
22266725
129066
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si3
8
M
Autism
ADOS score: 10. Vineland composite score: 110.
No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 80; Non-verbal IQ, 96.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si3
8
M
Autism
ADOS score: 10. Vineland composite score: 110.
No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 80; Non-verbal IQ, 96.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si30
11
M
Autism
ADOS score: 8. Vineland composite score: 71.
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 113; Non-verbal IQ, 102.
22097083
22290846
193764
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si30
11
M
Autism
ADOS score: 8. Vineland composite score: 71.
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 113; Non-verbal IQ, 102.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si30
11
M
Autism
ADOS score: 8. Vineland composite score: 71.
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 113; Non-verbal IQ, 102.
21985266
22079861
94596
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si301
6
M
Autism
ADOS score: 6. Vineland composite score: 59.
Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 32; Non-verbal IQ, 49.
21985266
22266725
281460
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si302
16
M
Autism
ADOS score: 9. Vineland composite score: 47.
No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 71; Non-verbal IQ, 82.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si302
16
M
Autism
ADOS score: 9. Vineland composite score: 47.
No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 71; Non-verbal IQ, 82.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si303
11
M
Autism
ADOS score: 10. Vineland composite score: 76.
Mild mental retardation/intellectual disability. Full-scale IQ, 63; Verbal IQ, 56; Non-verbal IQ, 68.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si305
7
M
Autism
ADOS score: 8. Vineland composite score: 70.
Severe mental retardation/intellectual disability. Full-scale IQ, 31; Verbal IQ, 22; Non-verbal IQ, 40.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si305
7
M
Autism
ADOS score: 8. Vineland composite score: 70.
Severe mental retardation/intellectual disability. Full-scale IQ, 31; Verbal IQ, 22; Non-verbal IQ, 40.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si306
14
M
Autism
ADOS score: 6. Vineland composite score: 59.
Severe mental retardation/intellectual disability. Full-scale IQ, 33; Verbal IQ, 26; Non-verbal IQ, 36.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si308
11
M
Autism
ADOS score: NA. Vineland composite score: NA.
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si308
11
M
Autism
ADOS score: NA. Vineland composite score: NA.
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si31
18
M
Autism
ADOS score: 9. Vineland composite score: 56.
Profound mental retardation/intellectual disability. Full-scale IQ, 18; Verbal IQ, 19; Non-verbal IQ, 19.
22027709
22095282
67574
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si310
10
M
Autism
ADOS score: 9. Vineland composite score: 66.
Mild mental retardation/intellectual disability. Full-scale IQ, 63; Verbal IQ, 61; Non-verbal IQ, 70.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si310
10
M
Autism
ADOS score: 9. Vineland composite score: 66.
Mild mental retardation/intellectual disability. Full-scale IQ, 63; Verbal IQ, 61; Non-verbal IQ, 70.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si311
7
M
Autism
ADOS score: 8. Vineland composite score: 67.
Mild mental retardation/intellectual disability. Full-scale IQ, 69; Verbal IQ, 59; Non-verbal IQ, 59.
22043516
22095282
51767
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si313
13
M
Autism
ADOS score: 8. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 108; Non-verbal IQ, 108.
22075724
22290846
215123
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si313
13
M
Autism
ADOS score: 8. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 108; Non-verbal IQ, 108.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si314
7
M
Autism
ADOS score: 10. Vineland composite score: 94.
No mental retardation/intellectual disability. Full-scale IQ, 110; Verbal IQ, 109; Non-verbal IQ, 109.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si314
7
M
Autism
ADOS score: 10. Vineland composite score: 94.
No mental retardation/intellectual disability. Full-scale IQ, 110; Verbal IQ, 109; Non-verbal IQ, 109.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si315
9
M
Autism
ADOS score: 10. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 97; Non-verbal IQ, 89.
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si315
9
M
Autism
ADOS score: 10. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 97; Non-verbal IQ, 89.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si316
10
F
Autism
ADOS score: 7. Vineland composite score: 92.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 122; Non-verbal IQ, 90.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si316
10
F
Autism
ADOS score: 7. Vineland composite score: 92.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 122; Non-verbal IQ, 90.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si317
16
M
Autism
ADOS score: 8. Vineland composite score: 93.
No mental retardation/intellectual disability. Full-scale IQ, 95; Verbal IQ, 98; Non-verbal IQ, 94.
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si317
16
M
Autism
ADOS score: 8. Vineland composite score: 93.
No mental retardation/intellectual disability. Full-scale IQ, 95; Verbal IQ, 98; Non-verbal IQ, 94.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si317
16
M
Autism
ADOS score: 8. Vineland composite score: 93.
No mental retardation/intellectual disability. Full-scale IQ, 95; Verbal IQ, 98; Non-verbal IQ, 94.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si318
12
M
Autism
ADOS score: 7. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 89; Non-verbal IQ, 80.
22120193
22290846
170654
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si318
12
M
Autism
ADOS score: 7. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 89; Non-verbal IQ, 80.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si319
12
M
Autism
ADOS score: 8. Vineland composite score: 73.
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 93; Non-verbal IQ, 92.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si319
12
M
Autism
ADOS score: 8. Vineland composite score: 73.
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 93; Non-verbal IQ, 92.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si320
9
M
Autism
ADOS score: 7. Vineland composite score: 90.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 110; Non-verbal IQ, 101.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si320
9
M
Autism
ADOS score: 7. Vineland composite score: 90.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 110; Non-verbal IQ, 101.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si321
8
M
Autism
ADOS score: 10. Vineland composite score: 67.
Moderate mental retardation/intellectual disability. Full-scale IQ, 54; Verbal IQ, 60; Non-verbal IQ, 59.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si321
8
M
Autism
ADOS score: 10. Vineland composite score: 67.
Moderate mental retardation/intellectual disability. Full-scale IQ, 54; Verbal IQ, 60; Non-verbal IQ, 59.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si323
15
M
Autism
ADOS score: 10. Vineland composite score: 56.
Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 36; Non-verbal IQ, 61.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si323
15
M
Autism
ADOS score: 10. Vineland composite score: 56.
Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 36; Non-verbal IQ, 61.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si324
16
F
Autism
ADOS score: 10. Vineland composite score: 59.
Moderate mental retardation/intellectual disability. Full-scale IQ, 51; Verbal IQ, 28; Non-verbal IQ, 72.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si325
9
M
Autism
ADOS score: 8. Vineland composite score: 77.
Mild mental retardation/intellectual disability. Full-scale IQ, 66; Verbal IQ, 58; Non-verbal IQ, 75.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si325
9
M
Autism
ADOS score: 8. Vineland composite score: 77.
Mild mental retardation/intellectual disability. Full-scale IQ, 66; Verbal IQ, 58; Non-verbal IQ, 75.
21985266
22043516
58251
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si326
11
M
Autism
ADOS score: 9. Vineland composite score: 93.
No mental retardation/intellectual disability. Full-scale IQ, 87; Verbal IQ, 96; Non-verbal IQ, 85.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si326
11
M
Autism
ADOS score: 9. Vineland composite score: 93.
No mental retardation/intellectual disability. Full-scale IQ, 87; Verbal IQ, 96; Non-verbal IQ, 85.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si33
19
M
Autism
ADOS score: NA. Vineland composite score: 89.
No mental retardation/intellectual disability. Full-scale IQ, 116; Verbal IQ, 114; Non-verbal IQ, 115.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si335
14
M
Autism
ADOS score: 8. Vineland composite score: 61.
Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 47; Non-verbal IQ, 66.
21985266
22272088
286823
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si335
14
M
Autism
ADOS score: 8. Vineland composite score: 61.
Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 47; Non-verbal IQ, 66.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si340
11
M
Autism
ADOS score: 10. Vineland composite score: 73.
Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 51; Non-verbal IQ, 85.
22057388
22270558
213171
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si340
11
M
Autism
ADOS score: 10. Vineland composite score: 73.
Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 51; Non-verbal IQ, 85.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si341
17
F
Autism
ADOS score: 7. Vineland composite score: 45.
Profound mental retardation/intellectual disability. Full-scale IQ, 23; Verbal IQ, 18; Non-verbal IQ, 26.
22027709
22095282
67574
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si342
6
M
Autism
ADOS score: 5. Vineland composite score: 84.
No mental retardation/intellectual disability. Full-scale IQ, 81; Verbal IQ, 75; Non-verbal IQ, 89.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si342
6
M
Autism
ADOS score: 5. Vineland composite score: 84.
No mental retardation/intellectual disability. Full-scale IQ, 81; Verbal IQ, 75; Non-verbal IQ, 89.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si343
11
M
Autism
ADOS score: 8. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 81; Verbal IQ, 72; Non-verbal IQ, 89.
22120193
22290846
170654
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si343
11
M
Autism
ADOS score: 8. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 81; Verbal IQ, 72; Non-verbal IQ, 89.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si343
11
M
Autism
ADOS score: 8. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 81; Verbal IQ, 72; Non-verbal IQ, 89.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si344
15
M
Autism
ADOS score: 6. Vineland composite score: 52.
Severe mental retardation/intellectual disability. Full-scale IQ, 31; Verbal IQ, 28; Non-verbal IQ, 33.
22027709
22092727
65019
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si345
13
M
Autism
ADOS score: 9. Vineland composite score: 73.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 86; Non-verbal IQ, 87.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si345
13
M
Autism
ADOS score: 9. Vineland composite score: 73.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 86; Non-verbal IQ, 87.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si346
9
M
Autism
ADOS score: 10. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 77; Non-verbal IQ, 92.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si346
9
M
Autism
ADOS score: 10. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 77; Non-verbal IQ, 92.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si348
17
M
Autism
ADOS score: 10. Vineland composite score: 67.
No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 50; Non-verbal IQ, 104.
22137660
22272088
134429
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si348
17
M
Autism
ADOS score: 10. Vineland composite score: 67.
No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 50; Non-verbal IQ, 104.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si35
17
M
Autism
ADOS score: 8. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 96; Non-verbal IQ, 98.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si35
17
M
Autism
ADOS score: 8. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 96; Non-verbal IQ, 98.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si36
9
M
Autism
ADOS score: 6. Vineland composite score: 66.
Mild mental retardation/intellectual disability. Full-scale IQ, 67; Verbal IQ, 40; Non-verbal IQ, 87.
22133581
22290846
157266
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si36
9
M
Autism
ADOS score: 6. Vineland composite score: 66.
Mild mental retardation/intellectual disability. Full-scale IQ, 67; Verbal IQ, 40; Non-verbal IQ, 87.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si37
10
M
Autism
ADOS score: 8. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 115; Non-verbal IQ, 129.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si38
15
M
Autism
ADOS score: 10. Vineland composite score: 70.
No mental retardation/intellectual disability. Full-scale IQ, 130; Verbal IQ, 116; Non-verbal IQ, 131.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si38
15
M
Autism
ADOS score: 10. Vineland composite score: 70.
No mental retardation/intellectual disability. Full-scale IQ, 130; Verbal IQ, 116; Non-verbal IQ, 131.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si39
11
F
Autism
ADOS score: 10. Vineland composite score: 63.
Moderate mental retardation/intellectual disability. Full-scale IQ, 52; Verbal IQ, 46; Non-verbal IQ, 62.
22137660
22263283
125624
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si4
13
M
Autism
ADOS score: 6. Vineland composite score: 54.
Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 24; Non-verbal IQ, 39.
21985266
22287942
302677
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si4
13
M
Autism
ADOS score: 6. Vineland composite score: 54.
Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 24; Non-verbal IQ, 39.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si40
16
M
Autism
ADOS score: 7. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 82; Non-verbal IQ, 77.
22097083
22266725
169643
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si41
10
F
Autism
ADOS score: 10. Vineland composite score: 70.
Mild mental retardation/intellectual disability. Full-scale IQ, 64; Verbal IQ, 83; Non-verbal IQ, 54.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si41
10
F
Autism
ADOS score: 10. Vineland composite score: 70.
Mild mental retardation/intellectual disability. Full-scale IQ, 64; Verbal IQ, 83; Non-verbal IQ, 54.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si42
6
F
Autism
ADOS score: 8. Vineland composite score: 85.
No mental retardation/intellectual disability. Full-scale IQ, 111; Verbal IQ, 107; Non-verbal IQ, 111.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si42
6
F
Autism
ADOS score: 8. Vineland composite score: 85.
No mental retardation/intellectual disability. Full-scale IQ, 111; Verbal IQ, 107; Non-verbal IQ, 111.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si43
9
M
Autism
ADOS score: 10. Vineland composite score: 93.
No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 114; Non-verbal IQ, 104.
22097083
22290846
193764
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si43
9
M
Autism
ADOS score: 10. Vineland composite score: 93.
No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 114; Non-verbal IQ, 104.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si44
19
M
Autism
ADOS score: NA. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 76; Verbal IQ, 93; Non-verbal IQ, 67.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si45
9
M
Autism
ADOS score: 7. Vineland composite score: 86.
No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 95; Non-verbal IQ, 131.
22120193
22290846
170654
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si45
9
M
Autism
ADOS score: 7. Vineland composite score: 86.
No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 95; Non-verbal IQ, 131.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si47
7
M
Autism
ADOS score: 7. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 56; Non-verbal IQ, 89.
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si47
7
M
Autism
ADOS score: 7. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 56; Non-verbal IQ, 89.
19147312
19465053
317741
NCBI36
Duplication
No
girirajan_11_ASD_discovery_cases-Si48
11
M
Autism
ADOS score: 10. Vineland composite score: 57.
Severe mental retardation/intellectual disability. Full-scale IQ, 37; Verbal IQ, 30; Non-verbal IQ, 45.
22097083
22272088
175006
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si48
11
M
Autism
ADOS score: 10. Vineland composite score: 57.
Severe mental retardation/intellectual disability. Full-scale IQ, 37; Verbal IQ, 30; Non-verbal IQ, 45.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si49
12
M
Autism
ADOS score: 4. Vineland composite score: 73.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 88; Non-verbal IQ, 94.
22120193
22272088
151896
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si50
13
M
Autism
ADOS score: 10. Vineland composite score: 60.
No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 78; Non-verbal IQ, 81.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si51
12
M
Autism
ADOS score: 7. Vineland composite score: 95.
No mental retardation/intellectual disability. Full-scale IQ, 127; Verbal IQ, 113; Non-verbal IQ, 129.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si52
7
M
Autism
ADOS score: 9. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 72; Verbal IQ, 76; Non-verbal IQ, 75.
22095282
22290846
195565
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si52
7
M
Autism
ADOS score: 9. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 72; Verbal IQ, 76; Non-verbal IQ, 75.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si52
7
M
Autism
ADOS score: 9. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 72; Verbal IQ, 76; Non-verbal IQ, 75.
21985266
22079861
94596
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si53
12
M
Autism
ADOS score: 10. Vineland composite score: 65.
Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 40; Non-verbal IQ, 50.
22097083
22290846
193764
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si53
12
M
Autism
ADOS score: 10. Vineland composite score: 65.
Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 40; Non-verbal IQ, 50.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si53
12
M
Autism
ADOS score: 10. Vineland composite score: 65.
Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 40; Non-verbal IQ, 50.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si54
8
M
Autism
ADOS score: NA. Vineland composite score: NA
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
22095282
22263283
168002
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si54
8
M
Autism
ADOS score: NA. Vineland composite score: NA
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si55
18
M
Autism
ADOS score: 8. Vineland composite score: 64.
No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 86; Non-verbal IQ, 92.
22120193
22267885
147693
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si56
15
M
Autism
ADOS score: 7. Vineland composite score: 64.
No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 106; Non-verbal IQ, 77.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si56
15
M
Autism
ADOS score: 7. Vineland composite score: 64.
No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 106; Non-verbal IQ, 77.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si57
11
M
Autism
ADOS score: 6. Vineland composite score: 83.
No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 117; Non-verbal IQ, 111.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si57
11
M
Autism
ADOS score: 6. Vineland composite score: 83.
No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 117; Non-verbal IQ, 111.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si58
8
M
Autism
ADOS score: 6. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 108; Verbal IQ, 90; Non-verbal IQ, 117.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si58
8
M
Autism
ADOS score: 6. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 108; Verbal IQ, 90; Non-verbal IQ, 117.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si59
7
F
Autism
ADOS score: NA. Vineland composite score: NA
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
22137660
22270558
132899
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si59
7
F
Autism
ADOS score: NA. Vineland composite score: NA
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si6
7
M
Autism
ADOS score: 8. Vineland composite score: 79.
Mild mental retardation/intellectual disability. Full-scale IQ, 70; Verbal IQ, 62; Non-verbal IQ, 79.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si60
10
M
Autism
ADOS score: 6. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 107; Non-verbal IQ, 125.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si61
13
M
Autism
ADOS score: 6. Vineland composite score: 67.
No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 128; Non-verbal IQ, 106.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si61
13
M
Autism
ADOS score: 6. Vineland composite score: 67.
No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 128; Non-verbal IQ, 106.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si62
10
M
Autism
ADOS score: 8. Vineland composite score: 60.
Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 15; Non-verbal IQ, 49.
21985266
22133581
148316
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si63
11
M
Autism
ADOS score: 9. Vineland composite score: 71.
No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 81; Non-verbal IQ, 106.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si63
11
M
Autism
ADOS score: 9. Vineland composite score: 71.
No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 81; Non-verbal IQ, 106.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si64
10
F
Autism
ADOS score: 6. Vineland composite score: 70.
Severe mental retardation/intellectual disability. Full-scale IQ, 40; Verbal IQ, 47; Non-verbal IQ, 41.
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si64
10
F
Autism
ADOS score: 6. Vineland composite score: 70.
Severe mental retardation/intellectual disability. Full-scale IQ, 40; Verbal IQ, 47; Non-verbal IQ, 41.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si64
10
F
Autism
ADOS score: 6. Vineland composite score: 70.
Severe mental retardation/intellectual disability. Full-scale IQ, 40; Verbal IQ, 47; Non-verbal IQ, 41.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si65
11
M
Autism
ADOS score: 7. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 96; Non-verbal IQ, 74.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si65
11
M
Autism
ADOS score: 7. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 96; Non-verbal IQ, 74.
22010337
22095282
84946
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si66
9
M
Autism
ADOS score: 7. Vineland composite score: 64.
Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 50; Non-verbal IQ, 59.
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si66
9
M
Autism
ADOS score: 7. Vineland composite score: 64.
Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 50; Non-verbal IQ, 59.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si67
7
M
Autism
ADOS score: 6. Vineland composite score: 100.
No mental retardation/intellectual disability. Full-scale IQ, 113; Verbal IQ, 123; Non-verbal IQ, 104.
22133581
22290846
157266
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si67
7
M
Autism
ADOS score: 6. Vineland composite score: 100.
No mental retardation/intellectual disability. Full-scale IQ, 113; Verbal IQ, 123; Non-verbal IQ, 104.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si67
7
M
Autism
ADOS score: 6. Vineland composite score: 100.
No mental retardation/intellectual disability. Full-scale IQ, 113; Verbal IQ, 123; Non-verbal IQ, 104.
21985266
22079861
94596
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si68
16
M
Autism
ADOS score: 6. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 90.
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si68
16
M
Autism
ADOS score: 6. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 90.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si68
16
M
Autism
ADOS score: 6. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 90.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si69
6
M
Autism
ADOS score: 5. Vineland composite score: 62.
No mental retardation/intellectual disability. Full-scale IQ, 98; Verbal IQ, 95; Non-verbal IQ, 101.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si69
6
M
Autism
ADOS score: 5. Vineland composite score: 62.
No mental retardation/intellectual disability. Full-scale IQ, 98; Verbal IQ, 95; Non-verbal IQ, 101.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si7
17
M
Autism
ADOS score: NA. Vineland composite score: 67.
No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 88; Non-verbal IQ, 73.
21985266
22287942
302677
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si7
17
M
Autism
ADOS score: NA. Vineland composite score: 67.
No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 88; Non-verbal IQ, 73.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si70
10
M
Autism
ADOS score: 8. Vineland composite score: 83.
No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 118; Non-verbal IQ, 111.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si70
10
M
Autism
ADOS score: 8. Vineland composite score: 83.
No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 118; Non-verbal IQ, 111.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si71
15
M
Autism
ADOS score: 5. Vineland composite score: 96.
No mental retardation/intellectual disability. Full-scale IQ, 127; Verbal IQ, 128; Non-verbal IQ, 124.
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si72
17
M
Autism
ADOS score: 5. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 89; Non-verbal IQ, 102.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si72
17
M
Autism
ADOS score: 5. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 89; Non-verbal IQ, 102.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si73
16
M
Autism
ADOS score: 9. Vineland composite score: 85.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 83; Non-verbal IQ, 108.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si73
16
M
Autism
ADOS score: 9. Vineland composite score: 85.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 83; Non-verbal IQ, 108.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si74
13
M
Autism
ADOS score: 9. Vineland composite score: 60.
Mild mental retardation/intellectual disability. Full-scale IQ, 60; Verbal IQ, 51; Non-verbal IQ, 66.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si75
10
M
Autism
ADOS score: 5. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 87; Verbal IQ, 84; Non-verbal IQ, 90.
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si75
10
M
Autism
ADOS score: 5. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 87; Verbal IQ, 84; Non-verbal IQ, 90.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si75
10
M
Autism
ADOS score: 5. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 87; Verbal IQ, 84; Non-verbal IQ, 90.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si76
12
M
Autism
ADOS score: 10. Vineland composite score: 90.
No mental retardation/intellectual disability. Full-scale IQ, 72; Verbal IQ, 65; Non-verbal IQ, 79.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si76
12
M
Autism
ADOS score: 10. Vineland composite score: 90.
No mental retardation/intellectual disability. Full-scale IQ, 72; Verbal IQ, 65; Non-verbal IQ, 79.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si77
14
M
Autism
ADOS score: 6. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 112; Verbal IQ, 114; Non-verbal IQ, 109.
22133581
22290846
157266
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si77
14
M
Autism
ADOS score: 6. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 112; Verbal IQ, 114; Non-verbal IQ, 109.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si77
14
M
Autism
ADOS score: 6. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 112; Verbal IQ, 114; Non-verbal IQ, 109.
21985266
22045190
59925
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si78
17
M
Autism
ADOS score: 6. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 81; Verbal IQ, 77; Non-verbal IQ, 89.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si78
17
M
Autism
ADOS score: 6. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 81; Verbal IQ, 77; Non-verbal IQ, 89.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si79
16
M
Autism
ADOS score: 8. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 77; Non-verbal IQ, 83.
22075724
22267885
192162
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si79
16
M
Autism
ADOS score: 8. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 77; Non-verbal IQ, 83.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si8
16
M
Autism
ADOS score: 7. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 93; Non-verbal IQ, 91.
22068442
22290846
222405
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si8
16
M
Autism
ADOS score: 7. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 93; Non-verbal IQ, 91.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si80
6
M
Autism
ADOS score: 6. Vineland composite score: 85.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 87; Non-verbal IQ, 95.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si81
7
M
Autism
ADOS score: 8. Vineland composite score: 70.
Mild mental retardation/intellectual disability. Full-scale IQ, 61; Verbal IQ, 38; Non-verbal IQ, 73.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si81
7
M
Autism
ADOS score: 8. Vineland composite score: 70.
Mild mental retardation/intellectual disability. Full-scale IQ, 61; Verbal IQ, 38; Non-verbal IQ, 73.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si82
14
M
Autism
ADOS score: 4. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 104; Non-verbal IQ, 100.
22097083
22290846
193764
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si82
14
M
Autism
ADOS score: 4. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 104; Non-verbal IQ, 100.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si82
14
M
Autism
ADOS score: 4. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 104; Non-verbal IQ, 100.
21985266
22079861
94596
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si83
12
M
Autism
ADOS score: 10. Vineland composite score: 64.
Moderate mental retardation/intellectual disability. Full-scale IQ, 41; Verbal IQ, 40; Non-verbal IQ, 41.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si83
12
M
Autism
ADOS score: 10. Vineland composite score: 64.
Moderate mental retardation/intellectual disability. Full-scale IQ, 41; Verbal IQ, 40; Non-verbal IQ, 41.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si84
14
M
Autism
ADOS score: 8. Vineland composite score: 77.
Mild mental retardation/intellectual disability. Full-scale IQ, 56; Verbal IQ, 53; Non-verbal IQ, 67.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si84
14
M
Autism
ADOS score: 8. Vineland composite score: 77.
Mild mental retardation/intellectual disability. Full-scale IQ, 56; Verbal IQ, 53; Non-verbal IQ, 67.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si85
13
M
Autism
ADOS score: 9. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 81; Non-verbal IQ, 101.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si86
17
F
Autism
ADOS score: 10. Vineland composite score: 53.
Severe mental retardation/intellectual disability. Full-scale IQ, 26; Verbal IQ, 19; Non-verbal IQ, 29.
22133581
22199051
65471
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si88
7
F
Autism
ADOS score: 5. Vineland composite score: 83.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 91; Non-verbal IQ, 94.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si88
7
F
Autism
ADOS score: 5. Vineland composite score: 83.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 91; Non-verbal IQ, 94.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si9
9
M
Autism
ADOS score: 4. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 64; Non-verbal IQ, 100.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si9
9
M
Autism
ADOS score: 4. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 64; Non-verbal IQ, 100.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si90
9
M
Autism
ADOS score: NA. Vineland composite score: NA.
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si90
9
M
Autism
ADOS score: NA. Vineland composite score: NA.
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si91
11
F
Autism
ADOS score: 8. Vineland composite score: 64.
Severe mental retardation/intellectual disability. Full-scale IQ, 36; Verbal IQ, 36; Non-verbal IQ, 36.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si91
11
F
Autism
ADOS score: 8. Vineland composite score: 64.
Severe mental retardation/intellectual disability. Full-scale IQ, 36; Verbal IQ, 36; Non-verbal IQ, 36.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si92
6
M
Autism
ADOS score: 4. Vineland composite score: 86.
No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 98; Non-verbal IQ, 123.
22097083
22290846
193764
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si92
6
M
Autism
ADOS score: 4. Vineland composite score: 86.
No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 98; Non-verbal IQ, 123.
21985266
22079861
94596
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si93
14
M
Autism
ADOS score: 4. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 111; Non-verbal IQ, 114.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si93
14
M
Autism
ADOS score: 4. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 111; Non-verbal IQ, 114.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si94
14
M
Autism
ADOS score: 8. Vineland composite score: 83.
No mental retardation/intellectual disability. Full-scale IQ, 137; Verbal IQ, 106; Non-verbal IQ, 146.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si94
14
M
Autism
ADOS score: 8. Vineland composite score: 83.
No mental retardation/intellectual disability. Full-scale IQ, 137; Verbal IQ, 106; Non-verbal IQ, 146.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si95
8
M
Autism
ADOS score: 5. Vineland composite score: 73.
No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 98; Non-verbal IQ, 112.
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si95
8
M
Autism
ADOS score: 5. Vineland composite score: 73.
No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 98; Non-verbal IQ, 112.
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si96
15
M
Autism
ADOS score: 9. Vineland composite score: 58.
Mild mental retardation/intellectual disability. Full-scale IQ, 56; Verbal IQ, 58; Non-verbal IQ, 55.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si96
15
M
Autism
ADOS score: 9. Vineland composite score: 58.
Mild mental retardation/intellectual disability. Full-scale IQ, 56; Verbal IQ, 58; Non-verbal IQ, 55.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si97
10
M
Autism
ADOS score: 10. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 87; Non-verbal IQ, 93.
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si97
10
M
Autism
ADOS score: 10. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 87; Non-verbal IQ, 93.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si99
10
M
Autism
ADOS score: 4. Vineland composite score: 94.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 100; Non-verbal IQ, 107.
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si99
10
M
Autism
ADOS score: 4. Vineland composite score: 94.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 100; Non-verbal IQ, 107.
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case0289
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0290
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0291
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0292
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0293
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0294
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0295
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0296
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0297
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0298
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0299
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0300
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0301
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0302
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0303
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0304
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0305
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0306
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0307
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0308
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0309
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0310
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0311
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0312
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0313
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0314
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0315
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0316
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0317
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0318
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0319
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0320
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0321
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0322
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0323
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0324
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0325
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0326
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0327
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0328
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0329
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0330
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0331
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0332
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0333
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0334
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0335
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0336
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0337
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0338
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0339
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0340
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0341
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0342
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0343
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0344
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0345
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0346
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0347
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0348
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0349
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0350
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0351
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0352
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0353
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0354
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0355
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0356
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0357
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0358
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0359
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0360
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0361
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0362
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0363
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0364
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0365
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0366
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0367
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0368
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0369
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0370
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0371
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0372
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0373
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0374
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0375
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0376
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0377
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0378
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0379
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0380
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0381
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0382
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0383
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0384
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0385
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0386
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0387
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0388
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0389
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0390
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0391
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0392
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0393
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0394
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0395
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0396
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0397
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0398
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0399
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0400
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0401
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0402
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0403
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0404
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0405
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0406
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0407
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0408
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0409
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0410
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0411
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0412
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0413
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0414
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0415
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0416
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0417
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0418
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0419
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0420
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0421
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0422
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0423
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0424
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0425
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0426
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0427
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0428
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0429
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0430
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0431
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0432
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0433
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0434
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0435
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0436
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0437
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0438
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0439
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0440
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0441
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0442
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0443
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0444
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0445
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0446
NA
NA
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case10538
NA
NA
Developmental delay
Seizure disorder, short stature, macrocephaly
Developmental delay
22784509
23074432
289924
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case21683
NA
NA
MCA
Multiple congenital anomalies (MCA)
NA
22784509
23074432
289924
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case27419
NA
NA
MCA
Multiple congenital anomalies (MCA), dysmorphic features, failure to thrive, congenital stenosis of aortic valve
NA
22784509
23074432
289924
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case33128
NA
NA
Developmental delay
Autistic features, convulsive disorder, microcephaly
Mental retardation
22784509
23074432
289924
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case37709
NA
NA
MCA
Multiple congenital anomalies (MCA)
NA
22784509
23074432
289924
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case63335
NA
NA
Developmental delay
Delayed developmental milestones, overgrowth
Developmental delay
22784509
23074432
289924
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case69285
NA
F
Developmental delay
NA
NA
22784509
23074432
289924
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case69470
NA
NA
Developmental delay
Delayed developmental milestones
Developmental delay
22784509
23074432
289924
GRCh38
Deletion
Yes
girirajan_13b_ASD_discovery_cases-10007107879
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22010337
22133581
123245
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-10007107879
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-10609111027
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-11107107914
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
22097083
22272088
175006
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-11107107914
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-11108109456
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-12308109510
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-13107107988
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-13809111107
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-13906105868
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-14307108019
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-14909111141
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-15508109664
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-15910112885
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-16008109701
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22137660
22188197
50538
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-16708109743
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-16909111203
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-1709110692
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-17609111227
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-19003100504
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-19003100504
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
22018738
22092727
73990
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-19405103174
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-19707108103
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-19804100154
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22088634
22286774
198141
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-19804100154
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-20005103253
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
22051206
22138507
87302
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-20008109910
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-20207108119
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-20604100546
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22095282
22290846
195565
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-20604100546
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-20708109930
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-20708109930
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-20708109930
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-20909111311
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22120193
22228491
108299
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-20909111311
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-21009111337
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-21009111337
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22051206
22133581
82376
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-21105103264
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
22027709
22133581
105873
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-21105103264
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-21409111351
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-21707108167
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-21707108167
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
21985266
22043516
58251
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-21907108174
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-21908109957
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22133581
22290846
157266
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-21908109957
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-22004100624
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-22307108194
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22137660
22264497
126838
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-22307108194
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-22505104145
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-2305102574
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-2305102574
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-23204100689
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22075724
22286774
211051
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-23204100689
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-23405103244
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22075724
22287942
212219
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-23405103244
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-23405103244
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
21985266
22045190
59925
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-23807108268
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22137680
22270558
132879
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-23807108268
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-23807108268
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
21985266
22043516
58251
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-2408108893
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22086235
22290846
204612
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-2408108893
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-24609111458
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-24705103861
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-24906106242
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-25105101983
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-25105101983
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-25105101983
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-25209111475
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-25504100812
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
22029260
22120193
90934
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-25505102977
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-25505102977
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-25804100823
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22042750
22095282
52533
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-25807108397
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
22137660
22260759
123100
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-25807108397
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-26107108401
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-26507108418
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-27705103506
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
22029260
22095282
66023
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-28208110205
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
22097083
22286774
189692
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-28208110205
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-28305103475
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22133581
22290846
157266
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-28309111551
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
24110224
24524603
414380
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-28407108602
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
22137660
22263283
125624
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-28504101060
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
24110224
24280849
170626
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-28504101060
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-28506106267
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-29007108475
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-29007108475
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-29007108475
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-29008110245
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-29309111573
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
22097083
22263283
166201
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-29806106231
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22088691
22290846
202156
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-29806106231
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-29905103852
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-29908110268
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
22133581
22290846
157266
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-29908110268
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-29909111597
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
22097083
22287942
190860
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-29909111597
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-3007107649
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22027709
22133581
105873
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-3007107649
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-30208110271
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22057388
22270558
213171
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-30408110274
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-30708110281
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22010337
22140310
129974
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-30708110281
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-31008110295
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-31008110295
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
21985266
22054329
69064
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-31706106451
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22138615
22286774
148160
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-31706106451
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-31906106492
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-32505103937
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-3309110754
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-33105103786
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22075724
22286774
211051
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-33105103786
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-34009111760
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
22133581
22286774
153194
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-34009111760
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-3407107669
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-34806106495
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22120193
22290846
170654
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-34904101211
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-3508108947
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-35408110434
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-35408110434
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
22137680
22208870
71191
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-35508110435
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-36006106625
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22137680
22290846
153167
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-36006106625
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-36006106625
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
21985266
22051206
65941
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-3605102633
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22133581
22290846
157266
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-3605102633
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-36609111835
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-36805104915
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-36904100666
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-36907108784
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-36909111849
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-37909111873
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-37909111873
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22027709
22079861
52153
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-38105103519
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-38108110540
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-38705103315
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
22133581
22270538
136958
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-38705103315
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-38806106786
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-39104101431
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-40008110627
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22095282
22290846
195565
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-40008110627
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-40208110630
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-40406106815
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-40906106831
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-41005104435
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-4105102663
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-4106105419
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
22097083
22290846
193764
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-4106105419
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-41504101477
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-41606106664
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-42506106873
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-42805103614
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-43405103622
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22137660
22266725
129066
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-4407107700
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-44106106924
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-45205104773
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-45309112087
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-45805103809
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-45905104126
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-46805104136
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-4709110813
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22097083
22290846
193764
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-4709110813
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-47306107043
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22010337
22133581
123245
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-47306107043
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-47404100574
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-47604101025
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-47609111962
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-47906107057
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-47906107057
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22018738
22092727
73990
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-48204101197
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
22137660
22228491
90832
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-48804101682
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-48904101700
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
22137660
22264497
126838
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-48904101700
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-49205104198
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-49906107136
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-50104101765
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22010337
22133581
123245
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-50104101765
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-50205104237
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22095282
22266725
171444
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-50205104237
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-50604101832
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22097083
22290846
193764
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-50604101832
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-50905104265
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-51206107184
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-51604101884
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-52104101908
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-52104101908
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-52904101932
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-53205104341
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-54304102048
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-55004102321
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22095282
22272088
176807
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-55004102321
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-55104100200
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22097083
22290846
193764
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-55104100200
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-55605104444
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22057388
22286774
229387
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-55605104444
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-55704100868
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-5603100206
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22095282
22286774
191493
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-5603100206
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-5606105324
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-56104101183
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
22137660
22267885
130226
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-5703100214
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22133581
22286774
153194
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-5703100214
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-57105104492
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-57505104500
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
22097083
22286774
189692
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-57505104500
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-57505104500
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-57804101558
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-57804101558
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
22010337
22092727
82391
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-5903100247
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
22138507
22270558
132052
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-5903100247
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-59704102165
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-60104102183
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22095282
22286774
191493
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-60104102183
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-60504102200
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-60704102209
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-607107598
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22027709
22133581
105873
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-60905104617
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-6103100278
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22010337
22120193
109857
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-6103100278
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-61204102229
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-62005104652
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-6208109266
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-63104102826
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-63204102829
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22097083
22264497
167415
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-63204102829
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-63205104572
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-65004102035
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-65004102035
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-6503100309
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-67204102376
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-67305104727
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-67804102406
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-70104102471
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22120193
22290846
170654
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-70104102471
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-70404102480
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22133581
22286774
153194
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-70404102480
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-708108819
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-709110652
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
22027709
22145700
117992
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-71104102660
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22097083
22286774
189692
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-71104102660
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-7806105460
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-7905103425
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-7905103425
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-7905103425
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-7908109348
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22027709
22133581
105873
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-7909110929
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-8103100683
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-8203100466
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-8205102886
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-8305102889
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-8405102790
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
22095282
22286774
191493
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-8405102790
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-8508109357
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
22097083
22287942
190860
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-8508109357
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
24110224
24418807
308584
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-8508109357
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-8508109357
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-8705102962
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22097083
22290846
193764
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-8705102962
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-8905102822
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-9005102681
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22057388
22270538
213151
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-9005102681
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-907107601
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-909110667
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22097083
22290846
193764
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-909110667
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-9105102949
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-9106105625
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-9305102846
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
24068586
24452482
383897
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-9405102860
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22010337
22133581
123245
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-9405102860
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-9505103679
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-9605102926
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
22138507
22286774
148268
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-9605102926
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-9908109393
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
N/A
19080050
19465053
385003
NCBI36
Duplication
No
gorker_18_ASD_discovery_cases-case31
7 yrs.
M
ASD, ADHD, ID
ASD and ADHD
Intellectual disability
24341879
24588235
246357
GRCh38
Duplication
No
granata_25_ASD_discovery_cases-caseA082
M
ASD
Case diagnosed with ASD based on DSM-5 criteria.
24981113
24996681
15569
GRCh38
Duplication
No
guo_18_ASD/DD/ID_discovery_cases-caseBK-463-03
N/A
M
ASD
22571401
23040600
469200
GRCh38
Deletion
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-463-04
N/A
F
ASD
22598801
23041600
442800
GRCh38
Deletion
Yes
guo_19_DD/ID_discovery_cases-case26
19 mos.
M
Intellectual disability
Obtundation status, poor fine motor coordination, motor deterioration, intellectual disability, delayed speech and language development, external ear malformation, esotropia, appendicular hypotonia, calcaneovalgus deformity, delayed myelination, long philtrum, poor eye contact
Intellectual disability
22621902
23121874
499973
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-caseY52
1 yr. 10 mos.
M
ASD
22777656
23191992
414337
GRCh38
Duplication
No
husson_20_ASD_discovery_cases-case175
6 yrs.
M
ASD
Diagnosis of ASD
22542623
23039709
497087
GRCh38
Deletion
Yes
husson_20_ASD_discovery_cases-case266
10 yrs.
M
ASD
Diagnosis of Asperger syndrome
22542623
23039709
497087
GRCh38
Deletion
Yes
husson_20_ASD_discovery_cases-case277
16 yrs.
M
ASD
Diagnosis of Asperger syndrome
22542623
23039709
497087
GRCh38
Deletion
Yes
husson_20_ASD_discovery_cases-case298
13 yrs.
F
ASD
Diagnosis of Asperger syndrome
22542623
23039709
497087
GRCh38
Deletion
Yes
itsara_10_ASD_discovery_cases-HI0385
NA
NA
Autism
NA
NA
23547626
23709102
161477
GRCh38
Duplication
Yes
jiao_19_EP/DD/ID_discovery_cases-case45223
7 yrs.
Female
ID and epilepsy/seizures
Motor and musculoskeletal evaluation: motor deterioration. Epilepsy/seizures: seizures. Additional medical history: nystagmus, decreased liver function. Growth parameters: microcephaly.
Intellectual disability
22621902
23121874
499973
GRCh38
Deletion
No
kalsner_17_ASD_discovery_cases-case3
N/A
N/A
ASD
Case (i) had a confirmed diagnosis of ASD by a developmental behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
22655582
23057762
402181
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000411
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22655582
23174546
518965
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000459
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
23735121
24259372
524252
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000638
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22572809
23174546
601738
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000772
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22726969
23107440
380472
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000777
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
24847127
24863718
16592
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000823
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22655582
23174546
518965
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000868
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22655582
23174546
518965
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000873
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
25337273
25381835
44563
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000942
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22572809
23174546
601738
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001103
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
24341879
24670107
328229
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001216
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22655582
23107440
451859
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001299
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22572809
23174546
601738
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001578
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22632213
23093146
460934
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001586
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22572809
23204016
631208
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001588
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22750921
23093146
342226
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001702
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22559691
23093146
533456
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001725
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
24847126
24862220
15095
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001848
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
24847126
24862220
15095
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001883
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22484473
23093146
608674
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002042
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22775968
23107440
331473
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002724
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22655582
23116563
460982
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002754
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
24873776
24921819
48044
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002776
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22572809
23204016
631208
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004947
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22358243
23107440
749198
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005241
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
24186506
24863718
677213
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005372
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22787972
23107440
319469
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005687
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22787972
23226873
438902
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005688
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22572658
23174746
602089
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1491
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
22769771
23096921
327151
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case1904
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
24376622
24464101
87480
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case1935
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
25107083
25108838
1756
Unknown
Homozygous deletion
No
kanduri_15_ASD_discovery_cases-case2003
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
22769771
23096921
327151
Unknown
Duplication
No
kanduri_15_ASD_discovery_cases-case2008
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
24376622
24472002
95381
Unknown
Deletion
No
koufaris_16_DD/ID_discovery_cases-case1
N/A
M
Intellectual disability and neurodevelopmental delay
Developmental milestones: neurodevelopmental delay. Motor and musculoskeletal evaluation: disorders in motor control and perception. Behavioral/psychiatric evaluation: features of ADHD. Growth parameters: obesity. Family history: born to nonconsanguineous normal parents.
Mild intellectual disability
24823808
24837297
13490
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11265.p1
N/A
M
ASD
ASD proband from SSC quad family 11265. SRS score of 90.
Full-scale IQ (FSIQ) score of 106.
22810749
23027307
216559
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12735.p1
N/A
M
ASD
ASD proband from SSC quad family 12735. SRS score of 90.
Full-scale IQ (FSIQ) score of 55.
22810749
23037153
226405
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case13393.p1
N/A
F
ASD
ASD proband from SSC quad family 13393. SRS score of 59.
Full-scale IQ (FSIQ) score of 77.
22810749
23133535
322787
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13493.p1
N/A
M
ASD
ASD proband from SSC quad family 13493. SRS score of 77.
Full-scale IQ (FSIQ) score of 104.
20534258
22308242
1773985
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11111.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
22812163
23133645
321483
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11265.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
22810749
23039544
228796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11305.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
22810749
23039544
228796
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11792.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
22786657
23039544
252888
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12311.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
22810749
23039544
228796
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12608.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
22810749
23032825
222077
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12665.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
22812163
23039544
227382
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12827.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
22892890
23039544
146655
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13072.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
22810749
23134888
324140
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13367.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
22786657
23037153
250497
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13393.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
22810749
23037153
226405
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13493.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
22810749
23037153
226405
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13640.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
22786657
23039544
252888
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13644.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
22810749
23134888
324140
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13771.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
22810749
23039544
228796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13924.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
22786657
23027307
240651
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14409.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
22810721
23226874
416154
GRCh38
Duplication
Yes
kucinska_24_ASD_discovery_cases-case4
M
ASD, developmental delay, intellectual disability, and epilepsy
Autism spectrum disorders, epilepsy, stereotypic movements, motor and speech development delay
Severe intellectual disability
22788634
23239599
450966
GRCh37
Deletion
Yes
kushima_18_ASD_discovery_cases-caseASD0134
15 yrs.
M
ASD, ADHD, ID, epilepsy/seizures
Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: positive for epileptic seizures/epilepsy. Family history: negative.
Intellectual disability (IQ < 70)
22570470
23226874
656405
GRCh38
Deletion
N/A
kushima_18_ASD_discovery_cases-caseASD0480
10 yrs.
F
ASD
Developmental milestones: language delay. Behavioral/psychiatric evaluation: sensory hypersensitivity (auditory hypersensitivity). Family history: positive for epilepsy.
IQ > 70
22770232
23126124
355893
GRCh38
Deletion
N/A
kushima_18_ASD_discovery_cases-caseASD0766
46 yrs.
M
ASD, ADHD
Developmental milestones: motor delay. Behavioral/psychiatric evaluation: ADHD, sensory hypersensitivity, mood disorders. Family history: negative.
IQ > 70
22673143
23226874
553732
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0593
57 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
22681827
23226874
545048
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0721
48 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 27 years of age (core symptoms include auditory hallucinations, persecutory delusions, negative symptoms). Brain imaging: diffuse cortical atrophy on brain MRI. Physical comorbidities: diabetes mellitus, obesity. Family history: negative.
IQ > 70
22751662
23126124
374463
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0824
67 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 19 years of age (core symptoms include delusions, hallucinations, disorganized behaviors, inappropriate affect). Brain imaging: diffuse cerebral atrophy on brain CT. Family history: negative.
IQ > 70
22751662
23126124
374463
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0903
65 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 16 years of age (core symptoms include auditory hallucinations, thought disorders, inappropriate affect, negative symptoms). Physical comorbidities: hemosiderosis. Family history: negative.
IQ > 70
22770232
23126124
355893
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0931
63 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 33 years of age (core symptoms include auditory hallucinations, disorganized speech and behavior, social withdrawal). Family history: negative.
IQ > 70
22751662
23126124
374463
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1012
41 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 15 years of age (core symptoms include delusions of observation and reference, auditory hallucinations, aggressive behavior), tic symptoms. Congenital and developmental phenotypes: birth asphyxia. Family history: positive for schizophrenia (SCZ).
IQ > 70
22673675
23126124
452450
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1054
54 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 14 years of age (core symptoms include auditory hallucinations, persecutory delusions). Family history: negative.
IQ > 70
22770232
23126124
355893
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1387
20 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
22770232
23126124
355893
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1940
54 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 24 years of age (core symptoms include delusions, hallucinations, negative symptoms). Physical comorbidities: Graves' disease. Family history: negative.
IQ > 70
22673143
23226874
553732
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1947
67 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 21 years of age (core symptoms include delusions, hallucinations, negative symptoms). Physical comorbidities: hypothyroidism. Family history: positive for Lewy body dementia.
IQ > 70
22444190
23226874
782685
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2039
47 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
22444190
23226874
782685
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2508
27 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
22444190
23226874
782685
GRCh38
Deletion
N/A
larson_17_ASD_discovery_cases-case21
N/A
M
ASD and psychosis
Male, learning disabilities, psychosis onset teens, diagnosis of schizoaffective bipolar type, family history depression (no FDR). CNV not reported in DGV.
Learning disabilities
23610716
25380912
1770197
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case89
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
24126429
24232775
106347
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case90
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
24126429
24232775
106347
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case91
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
24126429
24232775
106347
GRCh38
Duplication
No
leblond_12_ASD_replication_cases-Pintocase6319_3
NA
M
PDD-NOS
ADI-R domain scores: social, 14; communication, 8; behaviors, 2; age at first symptoms <36 months. Developmental milestones: delayed langauge (1st words at 24 months, 1st sentences at 48 months); no history of regression. Language and communication evaluation: delayed but functional language. Epilepsy/seizures: no history of epilepsy. Neurological examination: normal. Dysmorphic features: large and prominent ears, flat feet. Other comorbid medical conditions: hypermetropia.
Mild intellectual disability (ID). WISC-III IQ scores: full-scale IQ, 60; performance IQ, 60; verbal IQ, 67.
22651407
23119335
467929
GRCh38
Deletion
Yes
lee_17_ASD/DD/ID/MCA_discovery_cases-case20
3 yrs.
M
Developmental delay
Developmental delay, cryptorchidism, dystonia
24095531
24584699
489169
GRCh38
Duplication
No
lesca_12_EP_discovery_cases-caseEA85
NA
F
Epilepsy
Phenotype: LKS-woESES. Seizure Characteristics: Nocturnal, PS. Autistic features: No. ADHD features: Yes. Other features: None.
Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 87, performance IQ 87 (at 7 years of age).
23891005
24059931
168927
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11111.p1
NA
M
ASD
NA
NA
22776786
23118024
341239
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11265.p1
NA
M
ASD
NA
NA
22784483
23113945
329463
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11299.p1
NA
M
ASD
NA
NA
24844259
24871314
27056
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11305.p1
NA
M
ASD
NA
NA
22778638
23219690
441053
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11429.p1
NA
M
ASD
NA
NA
22786398
23116628
330231
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11792.p1
NA
M
ASD
NA
NA
22526892
23223718
696827
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-12007.p1
NA
F
ASD
NA
NA
22802775
23226873
424099
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-12332.p1
NA
M
ASD
NA
NA
22786398
23116628
330231
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12499.p1
NA
M
ASD
NA
NA
22778638
23116628
337991
GRCh38
Deletion
No
lintas_17_ASD_discovery_cases-case3.2
N/A
N/A
Asperger syndrome
No additional clinical information available
22787972
23107440
319469
GRCh38
Duplication
Yes
lionel_13_ASD/SCZ/EP_discovery_cases-proband4
5 yrs.
M
Epilepsy
Proband examined at age of five years for seizures of unknown type or duration; individual lost to follow-up; no detailed clinical information obtained; family samples not available for testing.
N/A
22787972
23107440
319469
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
24429740
24473449
43710
GRCh38
Deletion
No
lob_24_ASD_discovery_cases-caseASD127
ASD, ADHD, and developmental delay
Case diagnosed with ASD (ICD-10 code F.84) and also presented with global developmental delay, aggression, sensory processing disorder, and ADHD.
22770421
23282799
512379
GRCh37
Deletion
No
lob_24_ASD_discovery_cases-caseASD190
ASD, developmental delay, and seizures
Case diagnosed with ASD (ICD-10 code F.84) and also presented with hypertonia, craniosynostosis, global developmental delay, aggression, self-injurious behavior, generalized anxiety disorder/panic attacks, tremor, dystonia, non-epileptic myoclonus, generalized motor and focal motor/non-motor seizures, mitochondrial disease, and familial hypercholesterolemia.
22770421
23282799
512379
GRCh37
Deletion
No
lob_24_ASD_discovery_cases-caseASD275
ASD, ADHD, and developmental delay
Case diagnosed with ASD (ICD-10 code F.84) and also presented with facial asymmetry, global developmental delay, aggression, sensory processing disorder, anxiety, and ADHD.
22770421
23620154
849734
GRCh37
Deletion
No
lob_24_ASD_discovery_cases-caseASD306
ASD and developmental delay
Case diagnosed with ASD (ICD-10 code F.84) and also presented with flat facial profile with asymmetry, midface retrusion, hypertelorism, proptosis, broad nasal root, flat nasal bridge and nasal tip, prognathism, craniosynostosis, and global developmental delay.
22770421
23082328
311908
GRCh37
Duplication
No
lob_24_ASD_discovery_cases-caseASD9
ASD and seizures
Case diagnosed with ASD (ICD-10 code F.84) and also presented with hypotonia, global developmental delay/developmental regression, aggression, self-injurious behavior, sensory processing disorder, and generalized and focal motor seizures.
22770421
23290819
520399
GRCh37
Duplication
No
madrigal_12_ASD_discovery_cases-case1
12 yrs.
M
ASD
Developmental milestones: mild motor delay; delayed speech development. Motor and musculoskeletal evaluation: motor dyspraxia. Dysmorphic features: minor (dysmorphic ears, broad forehead, ogival palate), microcephaly. Family history: half-sibling with ASD and ID (same mother but different fathers); mother and maternal uncle reported to have learning and behavioral problems during childhood; no family history of intellectual disabilities. FMR1 CGG-repeat region analysis: low permutation range (58 CGG).
Intellectual disability
NA
NA
NA
NCBI36
Deletion
Yes
madrigal_12_ASD_discovery_cases-case2
9 yrs.
F
ASD
Developmental milestones: mild motor delay; delayed speech development. Motor and musculoskeletal evaluation: motor dyspraxia. Dysmorphic features: minor (dysmorphic ears, broad forehead, ogival palate), microcephaly. Family history: half-sibling with ASD and ID (same mother but different fathers); mother and maternal uncle reported to have learning and behavioral problems during childhood; no family history of intellectual disabilities. FMR1 CGG-repeat region analysis: two alleles within normal range 20 and 29 CGGs)
Intellectual disability
NA
NA
NA
NCBI36
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case106
5 yrs.
F
Language delay and language disorder
Birth history: born at 36 weeks gestation, no reported pregnancy anomalies. Developmental milestones: langauge delay. Language and communication evaluation: language disorder. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Additional medical history: congenital heart defects, cerebral malformations, neurological anomalies, skin anomalies. Dysmorphic features: epicanthus, upslanting palpebral fissures. Growth parameters: macrocephaly, normal growth. Family history: negative for consanguineity, positive for familiarity, family history negative for NDDs.
Mild intellectual disability
22787972
23088545
300574
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case108
16 yrs.
M
Developmental delay and learning disorder
Birth history: born at 36 weeks gestation following a pregnancy marked by pre-perinatal distress. Developmental milestones: motor delay, language delay. Language and communication evaluation: no language disorder or absent speech. Musculoskeletal evaluation: broad fingertips, overlapping toes (F5 overlapping F4), brachymetatrsia F5, proximally placed F2, skeletal anomalies, hypoplastic nails (F5 hand; F3 F4 F5 foot). Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Additional medical history: congenital heart defects, kidney malformations, genital malformations, ocular anomalies, skin anomalies. Dysmorphic features: arched eyebrows, deep philtrum, arched palate, malocclusion, exaggerated Cupid's bow. Growth parameters: normal head circumference, short stature. Family history: negative for consanguineity, negative for familiarity, family history negative for NDDs.
Learning disorder (no intellectual disability)
22787972
23088545
300574
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case156
6 yrs.
M
Intellectual disability
Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: no motor or language delay. Language and communication evaluation: language disorder. Musculoskeletal evaluation: clinodactyly of the 4th toes, skeletal anomalies. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: no. Additional medical history: skin anomalies. Dysmorphic features: no reported dysmorphic features. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
Mild intellectual disability
22693148
23088545
395398
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case73
9 yrs.
M
Dysmorphic features and ocular anomalies
Birth history: born at 35 weeks gestation following a pregnancy marked by steroid therapy. Developmental milestones: no motor or language delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Additional medical history: ocular anomalies. Dysmorphic features: short palpebral fissures, micro/anophtalmia. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history negative for NDDs.
Normal (no intellectual disability or learning disorder)
22693148
23088545
395398
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown35
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
22612612
23174517
561906
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown36
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
22693148
23107440
414293
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown37
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
22693148
23088545
395398
GRCh38
Deletion
No
martucci_23_ASD_discovery_cases-case11
F
ASD
Case clinically diagnosed with ASD according to DSM-5 criteria and supported by ADI and ADOS. ADOS score: moderate. Language and communication evaluation: verbal. EEG: negative. Family history: negative.
DQ/IQ score <50.
22770421
23282799
512379
GRCh37
Deletion
Yes
martucci_23_ASD_discovery_cases-case12
M
ASD
Case clinically diagnosed with ASD according to DSM-5 criteria and supported by ADI and ADOS. ADOS score: severe. Language and communication evaluation: verbal. EEG: non-specific anomalies. Family history: negative.
DQ/IQ score <50.
22770421
23283811
513391
GRCh37
Deletion
Yes
martucci_23_ASD_discovery_cases-case13
M
ASD
Case clinically diagnosed with ASD according to DSM-5 criteria and supported by ADI and ADOS. ADOS score: moderate. Language and communication evaluation: verbal. EEG: negative. Family history: negative.
DQ/IQ score <50.
22770421
23283811
513391
GRCh37
Deletion
Yes
martucci_23_ASD_discovery_cases-case14
M
ASD
Case clinically diagnosed with ASD according to DSM-5 criteria and supported by ADI and ADOS. ADOS score: mild. Language and communication evaluation: verbal. EEG: negative. Family history: speech delay in the paternal line.
DQ/IQ score 109.
22770421
23283811
513391
GRCh37
Duplication
Yes
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam13_P21
16 yrs.
M
ADHD, developmental delay, and learning disability
Language delay, ADHD
Learning disabilities
22765628
23208901
443274
GRCh37
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530559
F
MCA
Microcephaly (HP:0000252)
21339862
23139861
1800000
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530560
M
MCA
Abnormal facial shape (HP:0001999)
21489862
23339861
1850000
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530562
M
MCA
Abnormal facial shape (HP:0001999), microcephaly (HP:0000252)
20696041
23139861
2443821
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530563
M
Intellectual disability
Abnormal facial shape (HP:0001999)
Intellectual disability (HP:0001249).
22539862
23139861
600000
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530958
M
MCA
Orofacial cleft (HP:0000202)
22189862
23389861
1200000
GRCh38
Duplication
No
mitani_21_DD/ID_discovery_cases-caseBAB10573
NA
M
NDD
Family history: affected sibling does not carry this duplication.
22611700
23039544
427845
GRCh38
Duplication
Yes
moessner_07_ASD_discovery_cases-case1
NA
F
ASD
Nonverbal speech, poor social interaction, repetitive behaviors
Global developmental delay
19961833
22300085
2338253
GRCh38
Duplication
No
monteiro_19_ASD_discovery_cases_case13
2 yrs.
M
ASD and developmental delay
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: developmental delay. Dysmorphic features: none reported.
Intellectual disability
22664195
23107440
443246
GRCh38
Deletion
No
monteiro_19_ASD_discovery_cases_case14
2 yrs.
M
ASD and developmental delay
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: developmental delay. Dysmorphic features: none reported. Family history: 15q11.2 deletion inherited from a healthy mother who had a previous child with ASD from a previous relationship.
22664195
23107440
443246
GRCh38
Deletion
No
moreira_14_ASD/EP_discovery_cases-case2
16 yrs.
M
ASD and epilepsy
Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: hand/feet contractures. Epilepsy/seizures: yes. Dysmorphic features: deep set ears/prominent or large ears, short philtrum, thick lips. Growth parameters: height of 156 cm (<3rd %ile), weight of 50 kg (10th %ile), and head circumference of 54.5 cm (25th-50th %ile). Family history: consanguineous parents; two unaffected siblings (not available for testing).
22650812
23226874
576063
GRCh38
Deletion
No
morrow_08_ASD_discovery_cases-case1701
NA
ASD
NA
NA
18446000
20079000
1633000
Unknown
Duplication
No
morrow_08_ASD_discovery_cases-case2207
NA
ASD
NA
NA
18446000
18873000
427000
Unknown
Duplication
No
morrow_08_ASD_discovery_cases-case2801
NA
ASD
NA
NA
18446000
20060000
1613500
Unknown
Deletion
No
morrow_08_ASD_discovery_cases-case2901
NA
ASD
NA
NA
18446000
20078000
1631200
Unknown
Deletion
No
morrow_08_ASD_discovery_cases-case5501
NA
ASD
NA
NA
19112000
19832000
720000
Unknown
Duplication
No
morrow_08_ASD_discovery_cases-case6301
NA
ASD
NA
NA
19950000
20060000
109800
Unknown
Deletion
No
mosrati_12_ASD/MR_discovery_cases-caseV6
22 yrs.
F
Mental retardation
Behavioral and psychiatric evaluation: no autistic traits. Visual and auditory evaluation: moderate hearing loss. Family history: consanguineous parents; two brothers with autistic traits and hearing loss (one brother with additional diagnosis of mental retardation).
Moderate mental retardation (MR)
18436314
19307837
871523
Unknown
Deletion
No
nagamani_12_ASD/DD/ID_discovery_cases-patient4
16 yrs.
M
ASD
Diagnosis of pervasive developmental disorder (PDD). Developmental milestones: signficant language delay. Behavioral/psychiatric evaluation: significant impairment in social interaction, lack of emotional reciprocity, stereotypic motor movements. Epilepsy/seizures: generalized tonic-clonic seizures (began at age of 6 years); seizures well controlled by treatment with carbamazepine. Dysmorphic features: yes. Family history: sister with PDD and developmental delay; mother with microcephaly and mild ID; phenotypically normal father.
Developmental delay
NA
NA
NA
NCBI36
Duplication
No
nakamine_08_ASD_discovery_cases-case1
10 yrs. 3 mos.
M
Autism
Diagnosis of autism based on meeting full criteria on ADI-R and ADOS module 2. ADI-R evaluation: qualitative impairment of reciprocal social interaction score, 29; impairment of communication score, 21; repetitive behaviors & stereotyped patterns score, 6; abnormal development evident before 36 months score, 5. ADOS module 2 evaluation: communication total score, 7; social total score, 11; communication + social score, 18; imagination/creativity score, 2; restricted interests/repetitive behavior score, 3 (classification of autism). Birth/neonatal history: pregnancy complicated by urinary tract infection in 1st trimester, premature ruptures of membranes at 5 months, hyperemesis throughout pregnancy; delivered at full term by spontaneous vaginal delivery without reported complications; Apgar scores 8-8; exhibition of hypotonia, weak suction, and deglution problems at birth; height, weight, and head circumference within normal limits. Developmental milestones: delayed acquisition of motor skills before 6 months of age; held head up at 2 months, displayed social smile at 3 months, independently sat at 9 months, crawled at 12 months, stood up at 14 months, walked at 24 months, ran at 30 months; spoke first words shortly before 26 months, emergence of phrase speech at 84 months; attained vesicourethral sphincter control at 60 months of age, no fecal sphincter control. Motor skills/musculoskeletal characteristics: delayed acquisition of motor skills; problems with equilibrium and balance; motor clumsiness; slight muscular hypotonia; no gait ataxia; Behavioral characteristics: autistic behaviors (hand flapping, immediate and delayed echolalia, use of other persons' bodies to communicate intentions), constant smiling, passive, exhibits little social interest, not aggressive, no self-injurious behaviors, no attention deficits or hyperactivity. Vineland Adaptive Behavioral Scales: communication skills score, 32; daily living skills score, <20; social skills score, 49; adaptive behavior composite score, 31. Sleep disturbances: none. Epilepsy/seizures: none. EEG: normal. Other health concerns: inguinal hernia repaired at 6 yrs. 9 mos., continuing sinus problems. Dysmorphic features: narrow palpebral fissures, protruding ears, somewhat long fingers, bilateral palmar transverse creases; malocclusion with mild protrusion of superior maxilla, multiple dental caries. Growth parameters: height, 133 cm (6th %ile); weight, 27 kg (4th %ile). Family history: mother had difficulties with language acquisition and problems with stuttering; three healthy siblings; two maternal first cousins with unspecified learning problems.
Letier full-scale IQ score of 36
24276560
24424560
148001
GRCh38
Duplication
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-258891
N/A
F
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
22787972
23088545
300574
GRCh38
Duplication
N/A
noor_15_DD/ADHD_discovery_cases-case1
10 yrs.
F
Developmental delay and ADHD
Birth/neonatal history: born to 32 year-old mother via C-section due to fetal distress; Apgar scores of 5, 8, and 9 at 1, 5, and 10 minutes; diagnosed with infantile osteopetrosis at 9 days of age and underwent unrelated allogenic bone marrow transplantation at 4 months of age without complications; developed failure to thrive by 6 months of age; growth parameters always slightly below 3rd %ile for height and weight. Developmental milestones: global developmental delay; rolled over at 10 months, crawled at 16 months, walked at 18 months; non-verbal until age of 3 years, used sign language and received speech and langauge therapy with improvement; learned how to use buttons and zippers at 7 years of age, remains unable to tie shoelaces at age of 10 years. Language and communication evaluation: speaks fluently but with limited vocabulary at age of 10 years; struggles with proniting and currently uses a computer at school for this purpose. Behavioral/psychiatric evaluation: diagnosed with ADHD at 6 years of age (started on Concerta); problems with impulsivity and aggression; described as argumentative and oppositional with teachers; social, has friends at school, makes good eye contact. Epilepsy/seizures: none. Vision and hearing: normal visual and auditory evoked potentials. Dysmorphic features: none. Growth parameters: proportionately short stature. Family history: positive for learning disability, anxiety and depression on materal side of family (three of these affected family members positive for 15q11.2/UBE3A duplication); mother with learning difficulties, anxiety disorder and obessive-compulsive disorder, maternal half-uncle with learning difficulties and depression; maternal grandmother with anxiety and depression, maternal great-grandmother completed less than Grade 4 level and possible anxiety disorder, maternal great half-aunt with intellectual disability, schizophrenia, and autistic features (status of 15q11.2/UBE3A duplication unknown).
Attending Grade 4 with a modified individualized Education Program with accommodations
25322276
25450816
128541
GRCh38
Duplication
Yes
nord_11_ASD_discovery_cases-223-1
ASD
22638012
22667554
29543
Unknown
Deletion
No
oikonomakis_16_ASD_discovery_cases-case22
22 yrs.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: obesity
24186506
24599867
413362
GRCh38
Deletion
No
oikonomakis_16_ASD_discovery_cases-case3
8 yrs.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: microotia, microretrognathia, deep philtrum, strabismus, narrow palpebral fissures, hypotonia, contractures
24921760
24931279
9520
GRCh38
Deletion
No
oikonomakis_16_ASD_discovery_cases-case665
1 yr.
M
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: arthrogryposis
22790247
23107440
317194
GRCh38
Deletion
No
oikonomakis_16_ASD_discovery_cases-case709
4 yrs.
M
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: arthrogryposis
22707181
23107440
400260
GRCh38
Deletion
No
pfundt_16_nonNDD_discovery_cases-case130
N/A
N/A
Non-NDD
Disease cohort: complex phenotype. Description: Angelman syndrome; Prader-Willi syndrome
22094521
24587780
2493260
GRCh38
Deletion
Yes
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient1
N/A
M
ASD and intellectual disability
Developmental milestones: mild delay in walking (18 months); language regression after 2.5 years of age. Language and communication evaluation: non-verbal autism. Behavioral/psychiatric evaluation: non-verbal autism; OCD; irritability; mood disorder; stereotypies. Family history: father affected by mood disorder, anxiety, and chronic alcoholism; father's cousin affected by language delay; mother with autoimmune connective tissue disease.
Severe intellectual disability
22358243
23107440
749198
GRCh38
Duplication
Yes
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
N/A
M
ASD and ADHD
Case diagnosed with high functioning ASD (RAADS-R score of 123) and ADHD. Developmental milestones: normal motor development; delay in expressive language with difficulties in abstract processing and visual information. Family history: older brother with non-verbal low-functioning ASD; mother suffered from major depression, generalized anxiety disorder, and meningioma; maternal cousin with autism, language delay, and epilepsy associated with intellectual disability; two maternal uncles with gliomas involving the corpus callosum; mother's nephew with hemophilia; paternal grandmother with ill-defined psychiatric disorder.
TIQ score of 109
22664195
23107440
443246
GRCh38
Duplication
Yes
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
N/A
M
Developmental delay
Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: displayed neurodevelopmental delay at 1 year. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: self-injurious behavior. Family history: paternal uncle diagnosed with Asperger syndrome.
Developmental delay (TIQ score of 54)
22693148
23107440
414293
GRCh38
Duplication
Yes
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient4
N/A
M
ASD and intellectual disability
Case met criteria for ASD diagnosis, exceeding ADOS and ADI thresholds in all areas. Developmental milestones: motor delay; language delay. Behavioral/psychiatric evaluation: depressed mood. Brain imaging: cerebral venous malformation detected on brain MRI. Family history: brother of maternal grandfather affected by intellectual disability; maternal grandmother affected by thyroid cancer.
Moderate cognitive impairment (TIQ score of 41)
22693148
23107440
414293
GRCh38
Duplication
Yes
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient5
N/A
F
Intellectual disability and ADHD
Developmental milestones: motor delay; language delay. Motor and musculoskeletal evaluation: dyspraxia; strabismus. Behavioral/psychiatric evaluation: ADHD; some stereotypic behaviors. Brain imaging: delayed myelination detected on brain MRI. Family history: mild cognitive impairment and langauge delay in the father's cousin's daughter; sister of his maternal grandmother developed a brain tumor.
Mild intellectual disability (Leiter-R IQ score of 60)
22693148
23107440
414293
GRCh38
Duplication
Yes
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient6
N/A
M
ASD and intellectual disability
Case met diagnostic criteria for ASD with both ADOS and ADI scores falling into the autism spectrum range. Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: normal motor development; delay in expressive language. Behavioral/psychiatric evaluation: anxiety; OCD; attention deficit disorder (ADD). Family history: mother suffers from major depression, psoriasis, and eating disorder; father's family includes one case of intellectual disability, a paternal grandmother affected by depression and autoimmune thyroiditis, and a paternal uncle diagnosed with OCD.
Mild intellectual disability (TIQ score of 64); memory impairment
22030646
22270805
240160
GRCh38
Duplication
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient6
N/A
M
ASD and intellectual disability
Case met diagnostic criteria for ASD with both ADOS and ADI scores falling into the autism spectrum range. Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: normal motor development; delay in expressive language. Behavioral/psychiatric evaluation: anxiety; OCD; attention deficit disorder (ADD). Family history: mother suffers from major depression, psoriasis, and eating disorder; father's family includes one case of intellectual disability, a paternal grandmother affected by depression and autoimmune thyroiditis, and a paternal uncle diagnosed with OCD.
Mild intellectual disability (TIQ score of 64); memory impairment
22664195
23107440
443246
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case13043_523
NA
M
Autism
Fluent speech, no epilepsy, narrow face, elongated ears, physical exam otherwise normal
Normal IQ
21914925
22008680
93755
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case1987_301
NA
M
Autism
Verbal, no epilepsy; 15q11.2 BP1BP2 microduplication
Normal IQ
20090262
21038099
947838
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case5250_4
NA
M
Autism
No epilepsy, adherent ear lobes
Below average IQ (<1%ile)
20303106
20800564
497459
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case5263_3
NA
M
Autism
Below average language (1%ile), no epilepsy, no dysmorphic features
Below average IQ (<1%ile)
20235613
20807351
571739
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case5419_3
NA
M
Autism
No epilepsy; long, wide palpebral fissures, wide mouth, protruding ears, no other dysmorphic features
Unknown
24059521
24109283
49763
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5453_4
NA
M
Autism
Lowfunctioning autism, language delay, no epilepsy, no dysmorphic features
Unable to complete IQ measure
20303106
20836955
533850
Unknown
Deletion
Yes
pinto_10_ASD_discovery_cases-case6319_3
NA
M
PDD-NOS
Language delay, functional language, no epilepsy, hypermetropia, large and prominent ears, no other dysmorphic features, flat feet, normal brain MRI
Mild MR
22651407
23119335
467929
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case14358_4720
3 yrs. 7 mos.
M
ASD
ASD (ASD on ADI-R, autism on ADOS), language delay (first words 36 mo), limited language. Family history: N/A.
Griffiths at 3 y 7 mo: language DQ 49, performance DQ 98, global DQ 90
22651407
23122763
471357
GRCh38
Deletion
No
pinto_14_ASD_discovery_cases2-case2288_1
5 yrs. 7 mos.
M
ASD
ASD (ASD on ADI-R, autism on ADOS), language delay, verbal. Family history: N/A.
WPPSI-III at 5 y 7 mo: VIQ 75, PIQ 84, FSIQ 78.
22646842
23122763
475922
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case4045_1
8 yrs. 6 mos.
F
ASD
Autism (ADI-R and ADOS positive), language delay (first words 66 mo), verbal; seizures. Family history: N/A.
Vineland at 8 y 6 mo: Communication 50,Daily Living Skills 32, Socialization 63, Adaptive Behavior Composite 45
22645574
23226873
581300
GRCh38
Deletion
No
pinto_14_ASD_discovery_cases2-case4060_1
7 yrs. 10 mos.
M
ASD
Autism (ADI-R positive), no language delay (first words 12 mo, first phrases 30 mo), verbal, seizures. Family history: N/A.
Moderate ID (Griffiths at 7 y 10 mo: performance DQ 36)
22587582
23119335
531754
GRCh38
Deletion
No
pinto_14_ASD_discovery_cases2-case4431_1
N/A
M
ASD
Autism (ADI-R and ADOS positive), language delay, limited language, seizures. Family history: N/A.
N/A
22645574
23121326
475753
GRCh38
Deletion
No
pinto_14_ASD_discovery_cases2-case4541_1
N/A
M
ASD
Autism (ADI-R and ADOS positive), language delay (first words 12 mo, first phrases 45 mo), verbal. Family history: N/A.
VIQ 77, PIQ 61, FSIQ 65
22645574
23174591
529018
GRCh38
Deletion
No
pinto_14_ASD_discovery_cases2-case6248_3
N/A
M
ASD
Autism, non-verbal; born by C-section with increased height and head circumference; at 15 y: height >+ 3 SD, macrocephaly (head circumference >+3 DS) (his unaffected father and 2 brothers are also tall and have macrocephaly); long and narrow hands and feet, normal neurological exam, 2 caf-au-lait spots; 1 absence seizure at 11 y, with abnormal EEG, probably related to medications taken at that time, no other seizures afterwards. Family history: both parents unaffected.
Severe ID
22628010
23122763
494754
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case8117_202
N/A
M
ASD
Autism (ADI-R and ADOS positive), no language delay, verbal. Family history: affected sibling (CNV unknown) and unaffected brother (no CNV).
Moderate ID (WISC-III: VIQ 50, PIQ 50, FSIQ 42)
20095134
22308242
2213109
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case8430_204
6 yrs.
M
ASD
ASD (autism on ADI-R, did not meet criteria for ASD on ADOS), language delay (first words 65 mo, first phrases 69 mo), verbal. Family history: N/A.
WISC-III at 6 y: VIQ 56, PIQ 106, FSIQ 78
22646842
23122763
475922
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case9759_201
N/A
F
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
22645574
23226873
581300
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case00HI1663A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU056708; NDAR ID NDAR_INVAC801FDF)
24986925
25094129
107205
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case98HI0027A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU028503; NDAR ID NDAR_INVXL501PFH)
24986925
25094129
107205
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case96280L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
21855912
21881579
25668
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_159
11 yrs.
M
Intellectual disability and ADHD
ADHD, epicanthus. CNV inherited from an unaffected mother.
Intellectual disability
22590297
23102647
512351
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_168
14 yrs.
F
Intellectual disability
Behavior disorder. CNV inherited from an unaffected mother.
Intellectual disability
22590191
23102647
512457
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_270
3 yrs.
M
ASD and global developmental delay
ASD. CNV inherited from an unaffected mother.
Global developmental delay
22590297
23102647
512351
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_322
17 yrs.
F
Intellectual disability
Dysmorphic facial features, short stature, polycystic ovary
Intellectual disability
24594009
24743302
149294
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_348
14 yrs.
F
Intellectual disability
Additional clinical information N/A
Intellectual disability
22790740
23102647
311908
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_369
4 yrs.
M
Intellectual disability
Dysmorphic facial features
Intellectual disability
23375044
23544709
169666
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_466
1 yrs.
M
Developmental delay
Additional clinical information N/A
Global developmental delay
22584746
23102647
517902
GRCh38
Duplication
No
reinthaler_14_EP_discovery_cases-caseAVRE10
N/A
N/A
Epilepsy
Epilepsy phenotype: rolandic epilepsy.
22573096
23073068
499973
GRCh38
Duplication
No
reinthaler_14_EP_discovery_cases-caseAVRE11
N/A
N/A
Epilepsy
Epilepsy phenotype: rolandic epilepsy.
22573096
23073068
499973
GRCh38
Duplication
No
reinthaler_14_EP_discovery_cases-caseAVRE12
N/A
N/A
Epilepsy
Epilepsy phenotype: rolandic epilepsy.
22573096
23073068
499973
GRCh38
Duplication
No
reinthaler_14_EP_discovery_cases-caseAVRE13
N/A
N/A
Epilepsy
Epilepsy phenotype: rolandic epilepsy.
22573096
23073068
499973
GRCh38
Duplication
No
reinthaler_14_EP_discovery_cases-caseAVRE14
N/A
N/A
Epilepsy
Epilepsy phenotype: rolandic epilepsy.
22573096
23073068
499973
GRCh38
Duplication
No
reinthaler_14_EP_discovery_cases-caseGGRE14
N/A
N/A
Epilepsy
Epilepsy phenotype: rolandic epilepsy.
22573096
23073068
499973
GRCh38
Deletion
No
reinthaler_14_EP_discovery_cases-caseGGRE15
N/A
N/A
Epilepsy
Epilepsy phenotype: rolandic epilepsy.
22573096
23073068
499973
GRCh38
Duplication
No
roberts_13_ASD/DD/ID_discovery_cases-ASDcase7
9 yrs.
M
ASD
No reported clinical features
21153697
22308242
1154546
GRCh38
Duplication
Yes
roberts_13_ASD/DD/ID_discovery_cases-ASDcase8
20 yrs.
M
ASD
No reported clinical features
22563927
23117447
553521
GRCh38
Duplication
Yes
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase14
9 yrs.
M
Learning disability (developmental delay/intellectual disability)
Microcephaly, cataract, dysmorphism
22784184
23134047
349864
GRCh38
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case4384
NA
NA
ASD
NA
NA
20362442
20646318
283876
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case4627
NA
NA
ASD
NA
NA
20362442
20646318
283876
Unknown
Deletion
Yes
sahajpal_23_ASD/DD/ID_discovery_cases-case8
5.3 yrs.
M
Developmental delay and learning disability
Expressive language disorder, dolichocephaly, mild scoliosis, pes planus, reactive airway disease, attention deficit, speech delay, umbilical hernia, undesended testicle, neonatal jaundice, low-set and posteriorly-rotated ears with folded helix, high-arched and narrow palate, long face, downslanting palpebral fissures, below average physical measurements. Family history included learning disability in the maternal uncle and below-average physical measurments in the paternal great-uncle.
Learning disability, dyslexia
22770421
23620154
849734
GRCh37
Duplication
Yes
saia_23_TS_discovery_cases-case15
NA
M
Tourette syndrome and OCD
Case diagnosed with Tourette syndrome (YGTSS score 11). Behavioral/psychiatric evaluation: obsessive compulsive disorder (OCD), behavioral problems. Dysmorphic features: mild turricephaly, sparse eyebrows, poorly structured ears, mild bilateral gynecomastia, inverted nipples, pterygia of the neck.
22784523
23179948
395426
GRCh37
Deletion
No
saia_23_TS_discovery_cases-case19
NA
F
Tourette syndrome, ODD, and intellectual disability
Case diagnosed with Tourette syndrome (YGTSS score 20). Behavioral/psychiatric evaluation: oppositional defiant disorder (ODD). Dysmorphic features: none reported.
Mild intellectual disability
22784523
23179948
395426
GRCh37
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1019-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: no.
24329205
24535302
206098
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1036-0
N/A
N/A
ACC-PMG
Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: yes.
22737309
23108577
371269
GRCh38
Duplication
No
salyakina_11_ASD_discovery_cases-17668_001
M
Autism
Language delay.
19946357
20007545
61189
GRCh38
Duplication
Yes
salyakina_11_ASD_discovery_cases-17668_103
M
Autism
Language delay.
Mental retardation
19946357
20007545
61189
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11010.p1
4.1
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 68; verbal IQ, 60
23807399
23813741
6343
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11011.p1
8.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 69
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11041.p1
13
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
23810341
23818369
8029
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11060.p1
6.4
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ 93
24109283
24240013
130731
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11161.p1
7
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 74; verbal IQ, 59
25175831
25183961
8131
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11173.p1
10.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 71; verbal IQ 49
24474637
24517878
43242
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11173.p1
10.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 71; verbal IQ 49
23810341
23818369
8029
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11187.p1
7.8
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 115; verbal IQ, 108
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11224.p1
8.9
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 112; verbal IQ, 136
25177929
25183961
6033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11250.p1
14.8
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 124; verbal IQ, 86
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11275.p1
14.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 90
24131475
24226855
95381
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11276.p1
7.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ 59
23810341
23814566
4226
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11299.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 104; verbal IQ, 87
24847119
24869979
22861
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11300.p1
10.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 94
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11303.p1
5.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 110; verbal IQ, 102
23808170
23816350
8181
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11327.p1
11.3
M
ASD
NA
Full-scale IQ, 84; non-verbal IQ, 86; verbal IQ, 83
25177929
25183961
6033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11421.p1
7.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 51
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11452.p1
8.5
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 80; verbal IQ, 85
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11458.p1
16.4
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 106; verbal IQ, 126
24109283
24260428
151146
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11532.p1
9.1
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 65; verbal IQ, 60
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11571.p1
9.4
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 94; verbal IQ, 111
25175831
25183961
8131
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11590.p1
10.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 98
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11665.p1
9.9
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65
23810341
23814566
4226
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11714.p1
6.4
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 100; verbal IQ, 99
25175831
25183961
8131
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11715.p1
6.6
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 95; verbal IQ, 101
25175831
25183961
8131
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11766.p1
6
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 96
25173623
25183961
10339
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11811.p1
16.9
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 80
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11916.p1
4.8
F
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
25175831
25187203
11373
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11920.p1
10.8
M
Aspergers
NA
Full-scale IQ, 96; non-verbal IQ, 91; verbal IQ, 106
23810341
23814566
4226
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11940.p1
8.3
F
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 109; verbal IQ, 121
25175831
25183961
8131
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11959.p1
7.9
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 79; verbal IQ, 49
23810341
23814566
4226
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11982.p1
9.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
24109283
24247137
137855
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11984.p1
5
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 88
25175831
25183961
8131
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12068.p1
12.5
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 26
23810341
23814566
4226
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12073.p1
5.9
F
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 105
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12078.p1
9.2
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 113
25175831
25183961
8131
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12102.p1
5.1
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
25109152
25110682
1531
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12157.p1
14.7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 91; verbal IQ, 93
23810341
23813741
3401
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12260.p1
5.3
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
24821213
24833640
12428
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12360.p1
6.8
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12375.p1
15.9
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 93; verbal IQ, 85
23810341
23814566
4226
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12381.p1
6.2
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 64; verbal IQ, 79
23810341
23813741
3401
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12607.p1
5.3
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
24136058
24226855
90798
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12629.p1
4.1
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 113; verbal IQ, 101
23810341
23814566
4226
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12637.p1
7.3
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 96
23810341
23814566
4226
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12650.p1
6.4
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 100; verbal IQ, 109
24474637
24517878
43242
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12787.p1
7.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 130; verbal IQ, 88
24847119
24869979
22861
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12817.p1
9.4
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 34; verbal IQ, 37
23810341
23814566
4226
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12827.p1
5.5
F
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 78
24169022
24236604
67583
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12843.p1
6.2
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 84
24109283
24247137
137855
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12955.p1
13.1
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 66; verbal IQ, 67
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13041.p1
7
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13166.p1
9.1
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 45
23810341
23814566
4226
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13388.p1
5.4
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 81; verbal IQ, 113
23810341
23814566
4226
GRCh38
Deletion
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT230
NA
NA
ASD and developmental delay
Case met DSM-5 diagnostic criteria for ASD. Case also presented with psychomotor delay.
22880274
23648846
768573
GRCh37
Duplication
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT52
NA
NA
ASD
Case met DSM-5 diagnostic criteria for ASD. Case also presented with developmental delay, hypotonia, and hearing loss.
25175652
25246265
70614
GRCh38
Duplication
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT71
NA
NA
ASD
Case met DSM-5 diagnostic criteria for ASD. Case also presented with left sensorineural hearing loss, astigmatism, obesity, and speech abnormalities.
22880274
23648846
768573
GRCh37
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case106
5 yrs.
M
Congenital anomalies
Congenital anomalies
22572809
23107440
534632
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case64
10 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Dysmorphism
22572809
23107440
534632
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case92
2 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability
22655582
23107440
451859
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case93
1 yr.
M
Congenital anomalies
Congenital anomalies
22572809
23107440
534632
GRCh38
Duplication
No
sato_12_ASD_discovery_cases_2-family1caseIV-3
5 yrs. 8 mos.
M
Asperger
Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
19967091
22308242
2341152
GRCh38
Duplication
No
schmidt_24_ASD/DD/ID_discovery_cases-case1370
Child
M
Developmental delay
Delayed speech and language development (HP:0000750), spastic paraplegia (HP:0001258).
22833504
23255407
421904
GRCh37
Deletion
No
schuch_19_ASD_discovery_cases-case7
N/A
M
ASD and developmental delay
Autism disorder, developmental delay, seizures, psychomotor agitation, aggression, echolalia, repetitive movements.
22693148
22998545
305398
GRCh38
Deletion
No
servetti_21_ASD/ID/EP_discovery_cases-caseIGGAC15
NA
M
Developmental delay and intellectual disability
Psychomotor delay, mild atypical behaviors.
Borderline intellectual disability
22664194
23107440
443247
GRCh38
Deletion
No
servetti_21_ASD/ID/EP_discovery_cases-caseIGGAC16
NA
F
Intellectual disability
Hyperactivity, sleep disturbance
Intellectual disability
22664194
23107440
443247
GRCh38
Deletion
No
shen_10b_ASD_discovery_cases-caseII:5
41 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: born at 40 weeks gestation, normal delivery. Developmental milestones: significant learning disability during childhood, speech delay. Language and communication evaluation: non-communicative. Motor and musculoskeletal evaluation: normal gait. Behavioral/psychiatric evaluation: repetitive motor mannerisms; social difficulty. History of alcohol abuse. Other medical concerns and comorbidities: elevated serum lipid and uric acid levels. Dysmorphic features: flat face, down-slanting eyes, broad nasal bridge, large submaxilla, thick upper lip, low-set ears, terminal broadening of fingers. Growth parameters: height, 160 cm; weight, 67 kg; BMI, 26.17; OFC, NA.
IQ not tested; significant childhood learning disability
19805960
20079935
273975
Unknown
Deletion
No
shen_10b_ASD_discovery_cases-caseIII:1
12 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
Mental retardation. WISC IQ score of 46.
18810004
20060061
1250057
Unknown
Duplication
No
shen_10_ASD_discovery_cases-ASD-09-057
NA
M
ASD
NA
NA
22790247
23012211
221965
GRCh38
Deletion
No
shen_10_ASD_discovery_cases-ASD-09-058
NA
M
PDD-NOS
NA
NA
22719640
22996436
276797
GRCh38
Duplication
No
shin_15_ASD/DD/ID_discovery_cases-case1
1 yr.
M
DD and seizures
Developmental delay, seizures, bilateral pes planovalgus, cleft palate, simian crease on left hand, unilateral cryptorchidism (right side)
22595660
23102647
506988
GRCh38
Deletion
Yes
shin_15_ASD/DD/ID_discovery_cases-case10
4 yrs.
M
DD and seizures
Developmental delay, seizures
23319714
28769879
5450166
GRCh38
Duplication
Yes
siu_16_ASD_discovery_cases-patient2
Adult (22-33 yrs.)
M
ASD
Diagnosis of ASD made during childhood (before the year 1990) using Diagnostic and Statistical Manual of Mental Disorders, Third Revised Edition and confirmed with the developmental, dimensional and diagnostic interview during adulthood. No additional clinical features reported.
IQ of 129 [as determined by Wechsler Adult Intelligence Scale-Third edition (WAIS-III) Chinese version]
22787668
23051531
263864
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family70_Twin_2
N/A
N/A
ASD/NDD
Case is from a dizygotic twin pair from the Discordant ASD/Concordant NDD diagnostic group
24112065
24872046
759982
GRCh38
Deletion
Yes
streata_22_ASD/DD/ID_discovery_cases-case124
NA
M
Developmental delay and intellectual disability
Global developmental delay, speech and/or language delay or impairment, facial dysmorphism.
Mild/moderate intellectual disability
25275703
25365848
90146
GRCh38
Deletion
Yes
streata_22_ASD/DD/ID_discovery_cases-case143
NA
F
Developmental delay and intellectual disability
Global developmental delay, facial dysmorphism.
Mild/moderate intellectual disability
22765628
23300287
534660
GRCh37
Deletion
Yes
streata_22_ASD/DD/ID_discovery_cases-case307
NA
F
ASD, developmental delay, and intellectual disability
Global developmental delay, autism spectrum disorder, speech and/or language delay or impairment, facial dysmorphism.
Mild/moderate intellectual disability
22698520
23260534
562015
GRCh37
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR046-F11-01C08067
NA
ASD
NA
NA
24089360
24287460
198101
GRCh38
Deletion
Yes
tzetis_12_DD/ID_discovery_cases-case48
F
DD/ID
Narrow downslanting palpebral features, thin upper lip, large prominent ears, deep philtrum, Global hirsutism, hemangioma of temporal region, strabismus, ataxic gait, obesity
24186506
24599867
413362
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
Leiter-R IQ: 119 (92nd %ile)
24429986
24473449
43464
GRCh38
Deletion
No
van_den_bossche_12_BPD_discovery_cases-Bas1536
55
F
BPD
Age of onset: NA.
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_BPD_discovery_cases-Bas36
41
F
BPD
Age of onset: 16. Family history of bipolar disorder.
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_BPD_discovery_cases-Bas75
70
F
BPD
Age of onset: 50. Second degree family member with bipolar disorder.
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_BPD_discovery_cases-Sc250
45
F
BPD
Age of onset: 31.
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_BPD_discovery_cases-Sc269
55
M
BPD
Age of onset: 35.
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_BPD_discovery_cases-Sc5537
61
F
BPD
Age of onset: 52.
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_BPD_discovery_cases-Zas6706
46
M
BPD
Age of onset: 18.
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_ID_discovery_cases-Sc307
33
M
ID
Age of onset: 12.
22795724
23057983
262260
GRCh38
Deletion
No
van_den_bossche_12_ID_discovery_cases-Sc4266
59
M
ID
Age of onset: 15.
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_MDD_discovery_cases-Sc3948
NA
F
MDD
Age of onset: 18.
22795724
23057983
262260
GRCh38
Deletion
No
van_den_bossche_12_SCZ_discovery_cases-Das17
29
M
SCZ
Age of onset: 28.
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_cases-Sc11495
38
M
SCZ
Age of onset: 26.
22795724
23057983
262260
GRCh38
Deletion
No
van_den_bossche_12_SCZ_discovery_cases-Sc11554
22
F
SCZ
Age of onset: 21.
22795724
23057983
262260
GRCh38
Deletion
No
van_den_bossche_12_SCZ_discovery_cases-Sc11559
52
F
SCZ
Age of onset: 35.
22795724
23057983
262260
GRCh38
Deletion
No
van_den_bossche_12_SCZ_discovery_cases-Sc1587
35
M
SCZ
Age of onset: 18.
22795724
23057983
262260
GRCh38
Deletion
No
van_den_bossche_12_SCZ_discovery_cases-Sc1685
63
M
SCZ
Age of onset: 25.
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_cases-Sc3740
33
M
SCZ
Age of onset: 32.
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_cases-Sc4554
20
M
SCZ
Age of onset: 20.
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_cases-Zas8588
64
M
SCZ and epilepsy
Age of onset: 19. Also epilepsy.
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_cases-Zas8724
50
F
SCZ
Age of onset: 20.
22795724
23057983
262260
GRCh38
Deletion
No
van_den_bossche_12_SCZ_discovery_cases-Zas8961
38
M
SCZ and ID
Age of onset: 15.
Low IQ
22795724
23057983
262260
GRCh38
Duplication
No
van_der_zwaag_10_ASD_discovery_cases-proband
NA
F
ASD
Initially diagnosed with PDD-NOS; displayed general developmental delay, limited speech production, clumsiness, & tendency to tast and lick objects at 9 yrs. Father with CNV diagnosed with Asperger syndrome.
Combined IQ 83 (verbal IQ 89, performance IQ 81) (WISC-R)
22646842
23117883
471042
GRCh38
Duplication
Yes
verberne_22_ASD/DD/ID_discovery_cases-case35
NA
M
Developmental delay and intellectual disability
Speech and language delay, pectus excavatum, widely spaced eyes
Intellectual disability
22600362
23122763
522402
GRCh38
Deletion
No
verberne_22_ASD/DD/ID_discovery_cases-case380
NA
F
Short stature, obesity, irregular menstruation
24823461
24839172
15712
GRCh38
Deletion
No
verberne_22_ASD/DD/ID_discovery_cases-case570
NA
F
ASD, developmental delay, and seizures
Developmental delay, seizures, autism
22655581
23204016
548436
GRCh38
Duplication
No
viggiano_24_ASD_discovery_cases-case117.3
M
ASD
Case diagnosed with ASD according to DSM-5 criteria and assessed using ADOS-2 and CARS-2. Family history: deletion also present in an ASD-affected sister.
22636123
23117882
481760
GRCh38
Deletion
No
viggiano_24_ASD_discovery_cases-case99.4
M
ASD
Case diagnosed with ASD according to DSM-5 criteria and assessed using ADOS-2 and CARS-2. Family history: duplication not observed in an ASD-affected brother.
22636123
23102073
465951
GRCh38
Duplication
Yes
werling_19_ASD_discovery_cases-caseA010
8 yrs.
M
ASD
Case diagnosed with ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10 (F84.1); diagnosis confirmed using either ADOS or ADI-R (ADOS score 3; ADI-R A/B/C/D scores 14/14/4/3)
IQ score 104 (SON-R)
22790740
23102647
311908
GRCh38
Duplication
No
wintle_10_ASD_discovery_cases-AN17138
17
M
Autism
Autism
23319714
24141475
821762
GRCh38
Duplication
Yes
wintle_10_ASD_discovery_cases-AN17138
18
M
Autism
Autism
24188801
25146942
958142
GRCh38
Duplication
Yes
wisniowiecka-kowalnik_12_ASD_discovery_cases-patient6
9
M
Asperger syndrome
Asperger syndrome, abnormal EEG pattern at central, parietal and temporal regions of CNS, flat feet, ligamentous hypotonia
22786375
23226874
440500
GRCh38
Deletion
Yes
wolfe_16_ID_discovery_cases-DECIPHER327128
42 yrs.
F
Intellectual disability, bipolar disorder, and OCD
Psychiatric history: bipolar disorder. Mini PAS-ADD evaluation: depression, anxiety disorder, hypomania, obsessive compulsive disorder (OCD), psychosis, unspecified disorder. BPI-S evaluation: at least weekly stereotyped behavior. Medical history: recurrent urinary tract infections. Dysmorphic features: abnormality of external nose, abnormalities of the fingers. Growth parameters: height N/A, head circumference 55 cm. Ethnicity: white (British).
Moderate intellectual disability
22801254
23113352
312099
GRCh38
Deletion
Yes
ye_12_ASD/BPD/MDD/SCZ_discovery_cases-case4
NA (>13 yrs.)
F
Schizophrenia
NA
NA
20323416
22308242
1984827
GRCh38
Duplication
No
ye_12_ASD/BPD/MDD/SCZ_discovery_cases-case6
NA (>13 yrs.)
M
Bipolar Disorder (BPD)
NA
NA
22646628
23122763
476136
GRCh38
Duplication
No
ye_12_ASD/BPD/MDD/SCZ_discovery_cases-case7
NA (>13 yrs.)
F
Bipolar Disorder (BPD)
NA
NA
22797846
23122763
324918
GRCh38
Duplication
No
yingjun_17_ASD_discovery_cases-case5977
N/A
N/A
ASD
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
22960437
23102647
142211
GRCh38
Deletion
No
yingjun_17_ASD_discovery_cases-case5977
N/A
N/A
ASD
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
22681445
22955672
274228
GRCh38
Deletion
No
yuan_23_ASD_discovery_cases-qma00823s000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
23561814
23562381
568
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case1-0158-012
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: eczema
22643096
23123068
479973
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case5-0014-004
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
22775068
23123068
348001
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case7-0288-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
22610096
23226067
615972
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0804-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22584746
23102646
517901
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0809-003
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22586589
23102646
516058
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0844-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22358243
23102646
744404
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0903-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22681433
23102646
421214
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0903-004
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22581937
23102646
520710
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0947-003
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22584746
23102646
517901
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-1063-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22666191
23102646
436456
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case10-1005-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22590297
23102646
512350
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case14-0007-001
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22587663
23102646
514984
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case14-0332-001
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22790728
23102646
311919
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case14-0332-004
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22790728
23102646
311919
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case15AG167
N/A
M
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): no additional phenotypes reported
22589285
23102646
513362
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case178027
N/A
F
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): Learning disability (verbal reasoning), ASD traits
22596263
23102646
506384
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case181220
N/A
M
ASD and ADHD
Primary diagnosis: ADHD. Additional phenotype(s): ASD
22590286
23102646
512361
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1559-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22677371
23102646
425276
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1559-004
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22589270
23102646
513377
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case218110
N/A
M
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): Learning disability, Aspergers
22663430
23102646
439217
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case218117
N/A
F
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): Learning disability (gifted)
22670430
23102646
432217
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case239576S
N/A
F
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): Separation anxiety disorder, Language disorder, ASD traits, parentno additional phenotypes reportedchild relational problems
22663442
23102646
439205
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0640-000
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22666191
23102646
436456
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0719-000
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22658341
23102646
444306
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0719-001
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22666191
23102646
436456
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case4-0076-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22666191
23102646
436456
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case5-0141-003
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22790728
23102646
311919
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0168-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22595661
23102646
506986
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0221-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22590297
23102646
512350
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0286-004
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22590191
23102646
512456
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0288-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22790740
23102646
311907
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0293-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22589285
23102646
513362
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case9-0004-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
22584746
23102646
517901
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD1125-896863
N/A
M
OCD
Primary diagnosis: OCD. Additional phenotype(s): Dilated heart cardiomyopathy (has a pacemaker)
22790728
23102646
311919
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bacchelli_20_ASD_discovery_controls-control10130
N/A
F
Control
Control
22806332
23117883
311552
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036014918_
N/A
N/A
Control
No previous psychiatric history
24109283
24414650
305368
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB163688_1007875305
N/A
N/A
Control
No previous psychiatric history
19946357
19988669
42313
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB293534_1007842042
N/A
N/A
Control
No previous psychiatric history
24212423
24293282
80860
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB326294_1007873306
N/A
N/A
Control
No previous psychiatric history
24115850
24422150
306301
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB437844_1007854382
N/A
N/A
Control
No previous psychiatric history
23319714
23424164
104451
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB474177_1007872173
N/A
N/A
Control
No previous psychiatric history
24059521
24109283
49763
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB520147_1007873599
N/A
N/A
Control
No previous psychiatric history
24125248
24414650
289403
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB529429_1007872251
N/A
N/A
Control
No previous psychiatric history
23834638
23893932
59295
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB691484_1007854387
N/A
N/A
Control
No previous psychiatric history
21006436
21219533
213097
NCBI36
Deletion
No
engchuan_15_ASD_discovery_controls-controlB857546_0067942612
N/A
N/A
Control
No previous psychiatric history
21006436
21220752
214316
NCBI36
Deletion
No
engchuan_15_ASD_discovery_controls-controlB981427_1007852549
N/A
N/A
Control
No previous psychiatric history
21006436
21220752
214316
NCBI36
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902642_902642
N/A
N/A
Control
No previous psychiatric history
24200338
24300372
100035
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_01
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_02
NA
NA
Control
NA
NA
21985266
22287942
302677
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_03
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_03
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_07
NA
NA
Control
NA
NA
22137660
22270538
132879
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_100
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_100
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_101
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_102
NA
NA
Control
NA
NA
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_102
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_102
NA
NA
Control
NA
NA
21985266
22079861
94596
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_103
NA
NA
Control
NA
NA
22075724
22290846
215123
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_103
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_104
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_104
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_105
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_106
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_106
NA
NA
Control
NA
NA
22086235
22138810
52576
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_107
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_107
NA
NA
Control
NA
NA
21985266
22079861
94596
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_108
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_109
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_109
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_11
NA
NA
Control
NA
NA
22120193
22286774
166582
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_110
NA
NA
Control
NA
NA
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_110
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_111
NA
NA
Control
NA
NA
21985266
22287942
302677
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_111
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_112
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_114
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_115
NA
NA
Control
NA
NA
21985266
22286774
301509
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_115
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_116
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_116
NA
NA
Control
NA
NA
22650008
23161893
511886
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_117
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_117
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_118
NA
NA
Control
NA
NA
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_118
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_119
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_119
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_120
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_121
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_122
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_122
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_123
NA
NA
Control
NA
NA
22097083
22290846
193764
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_123
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_123
NA
NA
Control
NA
NA
21985266
22076279
91014
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_124
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_124
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_125
NA
NA
Control
NA
NA
21985266
22270558
285293
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_125
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_126
NA
NA
Control
NA
NA
22137660
22272088
134429
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_126
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_127
NA
NA
Control
NA
NA
21985266
22270558
285293
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_127
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_128
NA
NA
Control
NA
NA
22097083
22290846
193764
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_128
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_129
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_131
NA
NA
Control
NA
NA
21985266
22272088
286823
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_131
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_135
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_136
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_137
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_138
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_138
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_139
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_14
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_14
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_141
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_141
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_142
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_143
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_144
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_144
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_145
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_146
NA
NA
Control
NA
NA
22137660
22272088
134429
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_146
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_147
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_147
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_148
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_149
NA
NA
Control
NA
NA
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_149
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_150
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_150
NA
NA
Control
NA
NA
22018738
22092727
73990
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_152
NA
NA
Control
NA
NA
22095282
22272088
176807
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_153
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_153
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_154
NA
NA
Control
NA
NA
22075724
22286774
211051
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_154
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_154
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_155
NA
NA
Control
NA
NA
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_155
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_155
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_156
NA
NA
Control
NA
NA
24110224
24329137
218914
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_156
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_156
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_157
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_158
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_158
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_159
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_159
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_16
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_160
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_160
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_161
NA
NA
Control
NA
NA
22133581
22290846
157266
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_161
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_162
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_165
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_165
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_166
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_167
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_168
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_168
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_169
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_169
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_17
NA
NA
Control
NA
NA
21985266
22272088
286823
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_17
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_170
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_170
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_171
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_171
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_172
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_172
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_173
NA
NA
Control
NA
NA
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_173
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_173
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_174
NA
NA
Control
NA
NA
22068442
22290846
222405
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_174
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_174
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_175
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_176
NA
NA
Control
NA
NA
22137660
22272088
134429
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_176
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_177
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_177
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_178
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_179
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_180
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_181
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_181
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_182
NA
NA
Control
NA
NA
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_182
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_182
NA
NA
Control
NA
NA
21985266
22043516
58251
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_183
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_183
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_184
NA
NA
Control
NA
NA
22079861
22272088
192228
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_184
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_184
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_185
NA
NA
Control
NA
NA
22097083
22290846
193764
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_185
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_185
NA
NA
Control
NA
NA
21985266
22079861
94596
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_186
NA
NA
Control
NA
NA
21985266
22272088
286823
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_186
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_187
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_187
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_19
NA
NA
Control
NA
NA
22137660
22260759
123100
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_193
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_193
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_194
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_194
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_195
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_195
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_195
NA
NA
Control
NA
NA
22589966
23161893
571928
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_196
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_196
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_197
NA
NA
Control
NA
NA
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_197
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_197
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_198
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_198
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_199
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_199
NA
NA
Control
NA
NA
22650008
23161893
511886
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_200
NA
NA
Control
NA
NA
21985266
22272088
286823
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_200
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_201
NA
NA
Control
NA
NA
22057388
22270558
213171
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_201
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_201
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_202
NA
NA
Control
NA
NA
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_202
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_202
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_203
NA
NA
Control
NA
NA
22133581
22236880
103300
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_204
NA
NA
Control
NA
NA
22097083
22290846
193764
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_204
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_204
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_205
NA
NA
Control
NA
NA
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_205
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_205
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_206
NA
NA
Control
NA
NA
22137660
22270538
132879
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_206
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_207
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_207
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_208
NA
NA
Control
NA
NA
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_209
NA
NA
Control
NA
NA
22097083
22290846
193764
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_21
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_21
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_210
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_210
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_211
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_211
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_212
NA
NA
Control
NA
NA
22137660
22272088
134429
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_212
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_212
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_213
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_213
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_214
NA
NA
Control
NA
NA
24280672
24486406
205735
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_214
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_214
NA
NA
Control
NA
NA
22027709
22079861
52153
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_215
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_215
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_216
NA
NA
Control
NA
NA
22133581
22290846
157266
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_216
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_218
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_220
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_220
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_221
NA
NA
Control
NA
NA
22097083
22290846
193764
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_221
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_221
NA
NA
Control
NA
NA
21985266
22079861
94596
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_222
NA
NA
Control
NA
NA
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_222
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_222
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_223
NA
NA
Control
NA
NA
22137660
22286774
149115
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_223
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_225
NA
NA
Control
NA
NA
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_225
NA
NA
Control
NA
NA
24317373
24526685
209313
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_225
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_225
NA
NA
Control
NA
NA
21985266
22052701
67436
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_226
NA
NA
Control
NA
NA
22010337
22287942
277606
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_227
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_227
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_228
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_228
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_229
NA
NA
Control
NA
NA
21985266
22287942
302677
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_229
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_230
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_230
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_231
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_232
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_232
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_234
NA
NA
Control
NA
NA
21985266
22286774
301509
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_234
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_235
NA
NA
Control
NA
NA
21985266
22286774
301509
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_237
NA
NA
Control
NA
NA
22051206
22133581
82376
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_239
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_239
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_241
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_241
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_243
NA
NA
Control
NA
NA
21985266
22270558
285293
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_243
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_244
NA
NA
Control
NA
NA
22079861
22266725
186865
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_244
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_244
NA
NA
Control
NA
NA
21985266
22045190
59925
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_245
NA
NA
Control
NA
NA
22095282
22290846
195565
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_245
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_245
NA
NA
Control
NA
NA
21985266
22079861
94596
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_248
NA
NA
Control
NA
NA
22687890
23161893
474004
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_252
NA
NA
Control
NA
NA
21985266
22287942
302677
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_252
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_253
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_253
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_254
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_254
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_255
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_256
NA
NA
Control
NA
NA
22057388
22287942
230555
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_256
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_256
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_257
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_257
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_258
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_258
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_259
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_259
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_260
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_262
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_263
NA
NA
Control
NA
NA
22097083
22290846
193764
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_263
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_263
NA
NA
Control
NA
NA
21985266
22079861
94596
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_264
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_265
NA
NA
Control
NA
NA
22133581
22270558
136978
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_265
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_266
NA
NA
Control
NA
NA
22068442
22290846
222405
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_266
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_267
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_268
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_268
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_269
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_270
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_270
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_271
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_271
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_273
NA
NA
Control
NA
NA
22097083
22290846
193764
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_273
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_273
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_274
NA
NA
Control
NA
NA
22027709
22095282
67574
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_275
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_275
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_277
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_278
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_279
NA
NA
Control
NA
NA
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_279
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_279
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_280
NA
NA
Control
NA
NA
22786398
23095185
308788
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_281
NA
NA
Control
NA
NA
22137660
22263283
125624
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_282
NA
NA
Control
NA
NA
22027709
22133581
105873
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_284
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_284
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_286
NA
NA
Control
NA
NA
22137660
22272088
134429
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_286
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_287
NA
NA
Control
NA
NA
22137660
22266725
129066
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_287
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_288
NA
NA
Control
NA
NA
22076279
22270538
194260
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_288
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_289
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_289
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_29
NA
NA
Control
NA
NA
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_291
NA
NA
Control
NA
NA
24247126
24452482
205357
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_291
NA
NA
Control
NA
NA
21985266
22272088
286823
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_291
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_293
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_295
NA
NA
Control
NA
NA
22137660
22272088
134429
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_295
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_296
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_296
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_297
NA
NA
Control
NA
NA
22097083
22180599
83517
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_299
NA
NA
Control
NA
NA
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_299
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_299
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_30
NA
NA
Control
NA
NA
24009370
24083481
74112
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_300
NA
NA
Control
NA
NA
22086235
22287942
201708
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_301
NA
NA
Control
NA
NA
21985266
22286774
301509
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_301
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_302
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_302
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_303
NA
NA
Control
NA
NA
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_303
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_304
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_304
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_305
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_305
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_306
NA
NA
Control
NA
NA
21985266
22270538
285273
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_306
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_307
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_307
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_308
NA
NA
Control
NA
NA
21985266
22272088
286823
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_308
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_309
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_309
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_310
NA
NA
Control
NA
NA
22137660
22272088
134429
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_310
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_310
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_311
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_311
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_313
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_313
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_315
NA
NA
Control
NA
NA
22137660
22290846
153187
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_315
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_320
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_321
NA
NA
Control
NA
NA
23998616
24068743
70128
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_322
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_322
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_327
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_327
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_328
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_328
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_35
NA
NA
Control
NA
NA
22133581
22286774
153194
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_36
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_36
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_37
NA
NA
Control
NA
NA
22097083
22290846
193764
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_37
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_37
NA
NA
Control
NA
NA
21985266
22079861
94596
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_39
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_39
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_40
NA
NA
Control
NA
NA
21985266
22286774
301509
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_40
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_41
NA
NA
Control
NA
NA
22097083
22290846
193764
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_41
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_42
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_42
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_45
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_50
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_50
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_51
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_51
NA
NA
Control
NA
NA
22027709
22095282
67574
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_55
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_55
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_62
NA
NA
Control
NA
NA
22120193
22290846
170654
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_62
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_62
NA
NA
Control
NA
NA
21985266
22079861
94596
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_64
NA
NA
Control
NA
NA
22137660
22272088
134429
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_65
NA
NA
Control
NA
NA
22097083
22286774
189692
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_65
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_66
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_66
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_73
NA
NA
Control
NA
NA
21985266
22265240
279975
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_73
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_75
NA
NA
Control
NA
NA
22137660
22272088
134429
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_75
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_75
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_76
NA
NA
Control
NA
NA
22137660
22272088
134429
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_76
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_77
NA
NA
Control
NA
NA
21985266
22272088
286823
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_77
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_82
NA
NA
Control
NA
NA
22137660
22272088
134429
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_82
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_84
NA
NA
Control
NA
NA
22018738
22095282
76545
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_86
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_86
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_87
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_87
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_88
NA
NA
Control
NA
NA
22137660
22264497
126838
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_90
NA
NA
Control
NA
NA
22137660
22270558
132899
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_90
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_91
NA
NA
Control
NA
NA
22097083
22286774
189692
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_91
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_91
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_92
NA
NA
Control
NA
NA
22027709
22120193
92485
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_93
NA
NA
Control
NA
NA
22137660
22272088
134429
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_94
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_95
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_95
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_96
NA
NA
Control
NA
NA
22137660
22270558
132899
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_96
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_96
NA
NA
Control
NA
NA
21985266
22045190
59925
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_97
NA
NA
Control
NA
NA
21985266
22290846
305581
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_97
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_99
NA
NA
Control
NA
NA
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_99
NA
NA
Control
NA
NA
19080050
19465053
385003
NCBI36
Duplication
Yes
girirajan_11_ASD_discovery_controls-NIMH_99
NA
NA
Control
NA
NA
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_12_ASD/DD/ID_discovery_controls-control10
NA
NA
Control
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control11
NA
NA
Control
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control12
NA
NA
Control
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control13
NA
NA
Control
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control14
NA
NA
Control
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control15
NA
NA
Control
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control16
NA
NA
Control
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control17
NA
NA
Control
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control18
NA
NA
Control
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control19
NA
NA
Control
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control20
NA
NA
Control
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control21
NA
NA
Control
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control22
NA
NA
Control
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control4
NA
NA
Control
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control5
NA
NA
Control
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control6
NA
NA
Control
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control7
NA
NA
Control
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control8
NA
NA
Control
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control9
NA
NA
Control
NA
NA
22784509
23074432
289924
GRCh38
Deletion
NA
girirajan_13b_ASD_discovery_controls-1008108829
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22133581
22286774
153194
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-1008108829
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-10106105795
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-10203100189
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-10208109404
N/A
N/A
Control
Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-10608109423
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22097083
22290846
193764
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-10608109423
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-107107567
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-10809111031
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-10809111031
N/A
N/A
Control
Ethnicity: Caucasian
N/A
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-10905103688
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22010337
22120193
109857
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-10905103688
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-10908109454
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-1105102542
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-1105102542
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22010337
22079861
69525
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-11105103556
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-11206105836
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-11406105845
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-11406105845
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-11408109472
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-11510113081
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22018738
22077195
58458
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-11607107933
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-11806105859
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
22137660
22270558
132899
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-11910113021
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-11910113021
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-11910113021
N/A
N/A
Control
Ethnicity: Hispanic
N/A
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-12105102902
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22086235
22286774
200540
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-12105102902
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-12110113024
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22137660
22265901
128242
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-12110113024
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-12110113024
N/A
N/A
Control
Ethnicity: Caucasian
N/A
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-12306105910
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-12508109518
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22095282
22290846
195565
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-12508109518
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-12907107979
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-12907107979
N/A
N/A
Control
Ethnicity: Caucasian
N/A
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-1306105504
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-13703100328
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-13908109580
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22137660
22270538
132879
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-13908109580
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-14403100350
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-14406105966
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-1506105511
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-15110112933
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22097083
22290846
193764
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-15110112933
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-15506105989
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-15607108080
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22097083
22286774
189692
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-16207108108
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-16409111183
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Deletion
No
girirajan_13b_ASD_discovery_controls-16503100409
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22137660
22270538
132879
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-16503100409
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-1707107618
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-1707107618
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22027709
22079861
52153
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-17203100441
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22137660
22263283
125624
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-17203100441
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-18009111237
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
22097083
22290846
193764
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-18009111237
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-18808109853
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-19807108141
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22057388
22286774
229387
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-19807108141
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-19807108141
N/A
N/A
Control
Ethnicity: Hispanic
N/A
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-20209111301
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-20308109922
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22137660
22270558
132899
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-20308109922
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-20809111324
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22137680
22290846
153167
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-20809111324
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-2105102564
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
22137660
22270558
132899
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-22608109991
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-22709111397
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22137660
22270558
132899
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-22709111397
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Deletion
No
girirajan_13b_ASD_discovery_controls-23107108218
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-23107108218
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22051206
22133581
82376
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-2407107626
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22097083
22286774
189692
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-2407107626
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-24809111471
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22059740
22290846
231107
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-24809111471
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-24907108358
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-25205103118
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22018738
22133581
114844
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-25207108372
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-25208110101
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-25306106253
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-25306106253
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-25306106253
N/A
N/A
Control
Ethnicity: Hispanic
N/A
21985266
22043516
58251
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-26109111483
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-26405103148
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-26707108441
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-26707108441
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22010337
22095282
84946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-2707107646
N/A
N/A
Control
Ethnicity: Asian
N/A
22095282
22290846
195565
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-2707107646
N/A
N/A
Control
Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-27309111520
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-27706106372
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22092727
22290846
198120
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-27706106372
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-28605103511
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-28706106413
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22133581
22290846
157266
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-28706106413
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-28707108689
N/A
N/A
Control
Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-29005103467
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22018738
22133581
114844
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-29005103467
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-29409111582
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22010337
22120193
109857
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-29509111585
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-29606106442
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22133581
22290846
157266
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-29606106442
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-3008108929
N/A
N/A
Control
Ethnicity: Asian
N/A
22057388
22286774
229387
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-3008108929
N/A
N/A
Control
Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-30109111610
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22137660
22263283
125624
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-30109111610
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Deletion
No
girirajan_13b_ASD_discovery_controls-306105441
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22097083
22287942
190860
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-306105441
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-306105441
N/A
N/A
Control
Ethnicity: Hispanic
N/A
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-30705103901
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22097083
22286774
189692
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-30705103901
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-30706106486
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-308108799
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Deletion
No
girirajan_13b_ASD_discovery_controls-31007108543
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22092727
22286774
194048
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-3106105582
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22137660
22270558
132899
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-3106105582
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-31207108545
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-32006106507
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-3208108937
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-32208110333
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-32508110343
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-32508110343
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22137660
22199051
61392
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-32607108609
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-32907108625
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-33006106538
N/A
N/A
Control
Ethnicity: Asian
N/A
22120193
22286774
166582
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-33006106538
N/A
N/A
Control
Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-3306105584
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-3306105584
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-33409111730
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-33505103850
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22018738
22095282
76545
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-33907108640
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-34107108649
N/A
N/A
Control
Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-34407108672
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-34408110401
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22097083
22286774
189692
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-34408110401
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-34608110415
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-34707108258
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-3506105586
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22133581
22286774
153194
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-3506105586
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-35208110427
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-36206106646
N/A
N/A
Control
Ethnicity: African American
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-36607108778
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22137660
22270538
132879
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-36607108778
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19147312
19465053
317741
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-37209111863
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-37506106691
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22137660
22264497
126838
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-37506106691
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-37706106741
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22137660
22266725
129066
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-37706106741
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-37904101339
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22027709
22133581
105873
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-37906106748
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-38206106769
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22018738
22120193
101456
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-38206106769
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-38606106778
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-3907107675
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-39306106798
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-39306106798
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-39506106808
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22027709
22095282
67574
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-40005104405
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-40804101794
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22137660
22263283
125624
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-41406106851
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22097083
22290846
193764
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-41406106851
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-41406106851
N/A
N/A
Control
Ethnicity: Caucasian
N/A
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-42005103669
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-42106106858
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-42106106858
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-42106106858
N/A
N/A
Control
Ethnicity: Caucasian
N/A
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-42606106877
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-42806106886
N/A
N/A
Control
Ethnicity: Hispanic
N/A
24147179
24500918
353740
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-42806106886
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-43806106913
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-43806106913
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22137660
22196659
59000
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-44906106952
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-4506105599
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
22095282
22272088
176807
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-45304101644
N/A
N/A
Control
Ethnicity: African American
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-45706106971
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22133581
22290846
157266
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-45706106971
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-46006106980
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22097083
22290846
193764
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-46006106980
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-46206106988
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22077195
22290846
213652
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-46206106988
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-46406106996
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22133581
22290846
157266
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-46406106996
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-46506107005
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-46506107005
N/A
N/A
Control
Ethnicity: Caucasian
N/A
21985266
22045190
59925
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-47006107031
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-47006107031
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22003103
22059740
56638
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-4708108993
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-47809111973
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-48206107078
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-48905104181
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-48909112443
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
22097083
22287942
190860
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-48909112443
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-4906105609
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22133581
22290846
157266
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-4906105609
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-49206107109
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22075724
22287942
212219
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-49206107109
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-49406107134
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-49406107134
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-49406107134
N/A
N/A
Control
Ethnicity: Caucasian
N/A
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-49604101726
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22010337
22287942
277606
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-50009112516
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-50406107159
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-50406107159
N/A
N/A
Control
Ethnicity: Hispanic
N/A
21985266
22076279
91014
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-51006107171
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-51406107186
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-52505104317
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-52509112463
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Deletion
No
girirajan_13b_ASD_discovery_controls-52809112566
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-53306107454
N/A
N/A
Control
Ethnicity: African American
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-54305104360
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-54409112506
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Deletion
No
girirajan_13b_ASD_discovery_controls-54606107478
N/A
N/A
Control
Ethnicity: Caucasian
N/A
24110224
24280849
170626
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-54606107478
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-55105104410
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-55209112484
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-56206107529
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-56606107560
N/A
N/A
Control
Ethnicity: Asian
N/A
22137660
22270558
132899
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-56606107560
N/A
N/A
Control
Ethnicity: Asian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-58104101657
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-59905104552
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22133581
22290846
157266
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-59905104552
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-59905104552
N/A
N/A
Control
Ethnicity: Caucasian
N/A
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-6007107751
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22137680
22286774
149095
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-6007107751
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-60105104570
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22077195
22133581
56387
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-606105484
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-606105484
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22010337
22092727
82391
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-6106105636
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22133581
22290846
157266
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-6309110867
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22057388
22272088
214701
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-6309110867
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-6309110867
N/A
N/A
Control
Ethnicity: Caucasian
N/A
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-63605104696
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-6505102739
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
22097083
22290846
193764
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-6608109280
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22018738
22133581
114844
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-6608109280
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-66404102339
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-66605104891
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22120193
22270538
150346
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-66605104891
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-67005104902
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22057388
22290846
233459
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-67005104902
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-6808109293
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-68905105387
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-68905105387
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22018738
22088528
69791
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-70005105416
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22029260
22120193
90934
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-7006105686
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-70505105438
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-72204103059
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22029260
22088528
59269
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-7406105704
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-7907107797
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-8206105715
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22029260
22133581
104322
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-8606105736
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-8606105736
N/A
N/A
Control
Ethnicity: Hispanic
N/A
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-8808109366
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22095282
22290846
195565
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-8808109366
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-8808109366
N/A
N/A
Control
Ethnicity: Hispanic
N/A
21985266
22046099
60834
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-8906105747
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22133581
22290846
157266
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-8906105747
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-9107107840
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-9306105749
N/A
N/A
Control
Ethnicity: Hispanic
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-9409110993
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_controls-9507107845
N/A
N/A
Control
Ethnicity: Caucasian
N/A
19080050
19465053
385003
NCBI36
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1095
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
24055488
24061497
6010
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split130
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
24521050
24668007
146958
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1720
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
24521050
24668007
146958
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1863
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
22847512
23096921
249410
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split311
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
24055488
24058888
3401
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split436
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
22787103
23096921
309819
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control13393.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13393. SRS score of 47.
22810749
23037153
226405
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11017.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
22786657
23039544
252888
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11047.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
22810749
23037153
226405
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11073.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
22786657
23039544
252888
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11305.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
22810749
23037153
226405
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11470.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
22810749
23037153
226405
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13393.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
22810749
23037153
226405
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14107.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
22810749
23039544
228796
GRCh38
Deletion
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON0343
37 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
22577932
23226874
648943
GRCh38
Deletion
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON0345
27 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
22770232
23126124
355893
GRCh38
Deletion
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON0525
20 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
22789531
23126124
336594
GRCh38
Deletion
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON0710
60 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
22631331
23126124
494794
GRCh38
Deletion
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON1413
24 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
22673143
23226874
553732
GRCh38
Deletion
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON1822
29 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
22673143
23226874
553732
GRCh38
Deletion
N/A
levy_11_ASD_discovery_controls-11017.s1
NA
F
Control
NA
NA
22778638
23121842
343205
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11047.s1
NA
F
Control
NA
NA
22778638
23116628
337991
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11073.s1
NA
F
Control
NA
NA
22778638
23121842
343205
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11143.s1
NA
F
Control
NA
NA
22724865
23118452
393588
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11299.s1
NA
M
Control
NA
NA
24844259
24871314
27056
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11305.s1
NA
M
Control
NA
NA
22778638
23226873
448236
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11429.s1
NA
M
Control
NA
NA
22778638
23116628
337991
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11470.s1
NA
M
Control
NA
NA
22778638
23121842
343205
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11470.s2
NA
F
Control
NA
NA
22778638
23118024
339387
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11722.s1
NA
M
Control
NA
NA
24247762
24574678
326917
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12326.s1
NA
F
Control
NA
NA
24090540
24366966
276427
GRCh38
Deletion
No
reinthaler_14_EP_discovery_controls-control1
N/A
N/A
Control
Control
22573096
23073068
499973
GRCh38
Duplication
No
reinthaler_14_EP_discovery_controls-control2
N/A
N/A
Control
Control
22573096
23073068
499973
GRCh38
Duplication
No
reinthaler_14_EP_discovery_controls-control3
N/A
N/A
Control
Control
22573096
23073068
499973
GRCh38
Duplication
No
reinthaler_14_EP_discovery_controls-control4
N/A
N/A
Control
Control
22573096
23073068
499973
GRCh38
Duplication
No
reinthaler_14_EP_discovery_controls-control5
N/A
N/A
Control
Control
22573096
23073068
499973
GRCh38
Duplication
No
reinthaler_14_EP_discovery_controls-control6
N/A
N/A
Control
Control
22573096
23073068
499973
GRCh38
Duplication
No
reinthaler_14_EP_discovery_controls-control7
N/A
N/A
Control
Control
22573096
23073068
499973
GRCh38
Duplication
No
reinthaler_14_EP_discovery_controls-control8
N/A
N/A
Control
Control
22573096
23073068
499973
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11010.s1
7.7
M
Control (matched sibling)
NA
NA
23805111
23816350
11240
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11014.s1
5
M
Control (matched sibling)
NA
NA
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11041.s1
15.7
M
Control (matched sibling)
NA
NA
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11161.s1
9.3
F
Control (matched sibling)
NA
NA
25173623
25187203
13581
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11250.s1
12.7
F
Control (matched sibling)
NA
NA
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11275.s1
15.8
F
Control (matched sibling)
NA
NA
24131475
24226855
95381
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11299.s1
4.3
M
Control (matched sibling)
NA
NA
24843068
24877995
34928
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11300.s1
8
M
Control (matched sibling)
NA
NA
23810341
23814566
4226
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11316.s1
13.3
F
Control (matched sibling)
NA
NA
24109283
24274635
165353
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11421.s1
8.7
F
Control (matched sibling)
NA
NA
23808170
23816350
8181
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11452.s1
6.8
M
Control (matched sibling)
NA
NA
23810341
23818369
8029
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11480.s1
13.8
F
Control (matched sibling)
NA
NA
23810341
23814566
4226
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11532.s1
13.5
F
Control (matched sibling)
NA
NA
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11715.s1
6.6
F
Control (matched sibling)
NA
NA
25173623
25183961
10339
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11715.s1
6.6
F
Control (matched sibling)
NA
NA
23810341
23814566
4226
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11766.s1
4.3
F
Control (matched sibling)
NA
NA
25175831
25183961
8131
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11895.s1
4
M
Control (matched sibling)
NA
NA
25175831
25183961
8131
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11909.s1
5.7
M
Control (matched sibling)
NA
NA
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11922.s1
13.4
M
Control (matched sibling)
NA
NA
25175831
25183961
8131
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11959.s1
9.7
F
Control (matched sibling)
NA
NA
23810341
23814566
4226
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11984.s1
7.7
F
Control (matched sibling)
NA
NA
25175831
25183961
8131
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12032.s1
7.2
F
Control (matched sibling)
NA
NA
23810341
23814566
4226
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12068.s1
14.1
M
Control (matched sibling)
NA
NA
23810341
23818369
8029
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12071.s1
19.6
M
Control (matched sibling)
NA
NA
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12073.s1
7.3
F
Control (matched sibling)
NA
NA
23810341
23814566
4226
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12250.s1
6
F
Control (matched sibling)
NA
NA
23810341
23814566
4226
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12281.s1
18.1
F
Control (matched sibling)
NA
NA
24109283
24226855
117573
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12284.s1
12.2
F
Control (matched sibling)
NA
NA
24109283
24240013
130731
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12382.s1
12.4
M
Control (matched sibling)
NA
NA
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12383.s1
12.8
M
Control (matched sibling)
NA
NA
24059521
24115850
56330
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12644.s1
8.1
M
Control (matched sibling)
NA
NA
25173623
25183961
10339
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12764.s1
13.5
F
Control (matched sibling)
NA
NA
24109283
24247137
137855
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12799.s1
9
M
Control (matched sibling)
NA
NA
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13041.s1
9
M
Control (matched sibling)
NA
NA
23810341
23816350
6010
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13166.s1
5.6
M
Control (matched sibling)
NA
NA
23810341
23814566
4226
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13169.s1
16
M
Control (matched sibling)
NA
NA
23810341
23814566
4226
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family53_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic subgroup
24660633
24676747
16115
GRCh38
Deletion
No
van_den_bossche_12_BPD_discovery_controls-Aas311
49
M
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_BPD_discovery_controls-Bas1327
23
F
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_BPD_discovery_controls-Bas3280
52
F
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_BPD_discovery_controls-Bas359
68
M
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_BPD_discovery_controls-Bas435
46
F
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_BPD_discovery_controls-Berk3029
27
M
Control
Dyslexia, sniffed solvents at age 14, academic education, type II diabetes
22795724
23057983
262260
GRCh38
Deletion
No
van_den_bossche_12_BPD_discovery_controls-Berk3164
46
M
Control
Several episodes of anxiety and dysphoria after time of sampling, died of malign lymphoma
22795724
23057983
262260
GRCh38
Deletion
No
van_den_bossche_12_BPD_discovery_controls_Sc11147
59
M
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_ID_discovery_controls-Aas311
49
M
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_ID_discovery_controls-Bas1327
23
F
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_ID_discovery_controls-Bas3280
52
F
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_ID_discovery_controls-Bas359
68
M
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_ID_discovery_controls-Bas435
46
F
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_ID_discovery_controls-Berk3029
27
M
Control
Dyslexia, sniffed solvents at age 14, academic education, type II diabetes
22795724
23057983
262260
GRCh38
Deletion
No
van_den_bossche_12_ID_discovery_controls-Berk3164
46
M
Control
Several episodes of anxiety and dysphoria after time of sampling, died of malign lymphoma
22795724
23057983
262260
GRCh38
Deletion
No
van_den_bossche_12_ID_discovery_controls_Sc11147
59
M
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_MDD_discovery_controls-Aas311
49
M
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_MDD_discovery_controls-Bas1327
23
F
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_MDD_discovery_controls-Bas3280
52
F
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_MDD_discovery_controls-Bas359
68
M
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_MDD_discovery_controls-Bas435
46
F
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_MDD_discovery_controls-Berk3029
27
M
Control
Dyslexia, sniffed solvents at age 14, academic education, type II diabetes
22795724
23057983
262260
GRCh38
Deletion
No
van_den_bossche_12_MDD_discovery_controls-Berk3164
46
M
Control
Several episodes of anxiety and dysphoria after time of sampling, died of malign lymphoma
22795724
23057983
262260
GRCh38
Deletion
No
van_den_bossche_12_MDD_discovery_controls_Sc11147
59
M
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_controls-Aas311
49
M
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_controls-Bas1327
23
F
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_controls-Bas3280
52
F
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_controls-Bas359
68
M
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_controls-Bas435
46
F
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_controls-Berk3029
27
M
Control
Dyslexia, sniffed solvents at age 14, academic education, type II diabetes
22795724
23057983
262260
GRCh38
Deletion
No
van_den_bossche_12_SCZ_discovery_controls-Berk3164
46
M
Control
Several episodes of anxiety and dysphoria after time of sampling, died of malign lymphoma
22795724
23057983
262260
GRCh38
Deletion
No
van_den_bossche_12_SCZ_discovery_controls_Sc11147
59
M
Control
22795724
23057983
262260
GRCh38
Duplication
No
van_der_zwaag_10_ASD_discovery_controls_2-control1
NA
Control
NA
NA
471000
Unknown
Duplication
No
van_der_zwaag_10_ASD_discovery_controls_2-control2
NA
Control
NA
NA
471000
Unknown
Duplication
No
van_der_zwaag_10_ASD_discovery_controls_2-control3
NA
Control
NA
NA
471000
Unknown
Duplication
No
van_der_zwaag_10_ASD_discovery_controls_2-control4
NA
Control
NA
NA
471000
Unknown
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
abdelmoity_12_DD/ID_discovery_cases-case1
qPCR
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case10
qPCR
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case11
qPCR
Maternal
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case12
qPCR
Unknown
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case13
qPCR
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case14
qPCR
Maternal
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case15
qPCR
Paternal
Paternal
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case16
qPCR
Paternal
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case17
qPCR
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case18
qPCR
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case19
qPCR
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case2
qPCR
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case20
qPCR
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case21
qPCR
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case22
qPCR
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case23
qPCR
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case24
qPCR
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case25
qPCR
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case26
qPCR
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case27
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case28
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case29
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case3
qPCR
Unknown
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case30
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case31
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case32
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case33
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case4
qPCR
Unknown (not tested)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case5
qPCR
Unknown (not paternal)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case6
qPCR
Paternal
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case7
qPCR
Unknown (not maternal)
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case8
qPCR
Maternal
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
abdelmoity_12_DD/ID_discovery_cases-case9
qPCR
Maternal
Maternal
Unknown
Unknown
TUBGCP5, CYFIP1, NIPA2, NIPA1
ahn_13_SCZ_discovery_cases-NSB_ID1358
Validation based on familial presence of CNV
Maternal
Unknown
Unknown
RN7SL106P,ABCB10P1,MIR4509-1,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,WHAMMP3,NIPA1,CYFIP1
ahn_13_SCZ_discovery_cases-NSB_ID448
Unknown
Unknown
Unknown
GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,HERC2P3,POTEB2,NF1P9,LINC01193
akkus_24_ASD/DD/ID_discovery_cases-case19C
Unknown
NIPA2,NIPA1,TUBGCP5,WHAMMP3,GOLGA8EP,HERC2P2,SPATA31E3P,GOLGA8S,ELMO2P1,HERC2P7,RN7SL106P,RN7SL495P,RN7SL536P,CYFIP1
akkus_24_ASD/DD/ID_discovery_cases-case22C
Unknown
NIPA2,NIPA1,TUBGCP5,WHAMMP3,ELMO2P1,CYFIP1
akkus_24_ASD/DD/ID_discovery_cases-case30C
Unknown
NIPA2,NIPA1,TUBGCP5,WHAMMP3,ELMO2P1,CYFIP1
akkus_24_ASD/DD/ID_discovery_cases-case39A
Unknown
NIPA2,NIPA1,TUBGCP5,WHAMMP3,ELMO2P1,RN7SL495P,CYFIP1
akter_23_ASD/ADHD/DD/ID_discovery_cases-case135
Unknown
ABCB10P1,GOLGA6L1,GOLGA8S,ELMO2P1,GOLGA8DP,MIR4509-1,RN7SL106P,RN7SL536P
akter_24_ASD/ADHD/DD/ID_discovery_cases-case578
Unknown
SNHG14,UBE3A
alayadhi_16_ASD_discovery_cases-caseAUT1-1
qPCR
Paternal
Multiplex
PWRN2
alayadhi_16_ASD_discovery_cases-caseAUT1-2
qPCR
Paternal
Multiplex
PWRN2
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case10
Unknown
Unknown
RP11-79C23.1,RNU6-978P,RP11-173D3.3,IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD1OR15-1A
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case32
Unknown
Unknown
GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,HERC2P3,POTEB2,NF1P9,LINC01193
alvarez-mora_16_ASD_discovery_cases-caseASD-12
Possibly paternal
Paternal
Multi-generational
Possibly segregated
RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,POTEB3,POTEB,NF1P2,NF1P9
alvarez-mora_16_ASD_discovery_cases-caseASD-58
Paternal
Unknown
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient15
De novo
NBEAP1, POTEB, CYFIP1, NIPA1, NIPA2, TUBGCP5
al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient26
Paternal
CYFIP1, NIPA1, NIPA2, TUBGCP5, MRRN3, MAGEL2, NDN
al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient27
Maternal
MKRN3, MAGEL2, NDN
al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient28
Unknown
MKRN3, MAGEL2, NDN
al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient29
Maternal
MKRN3, MAGEL2, NDN
al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient30
Unknown
CYFIP1, NIPA1, NIPA2, TUBGCP5
al_sarraj_24_ASD_discovery_cases-case10
Maternal
NIPA2,NIPA1,TUBGCP5,WHAMMP3,HERC2P2,ELMO2P1,RN7SL495P,CYFIP1
annunziata_21_ASD_discovery_cases-caseIB248
qPCR, FISH
Unknown
NIPA2,TUBGCP5,NIPA1,GOLGA8IP,WHAMMP3,ELMO2P1,PDCD6IPP1,CYFIP1
annunziata_21_ASD_discovery_cases-caseIB251
qPCR, FISH
Unknown
ABCB10P1,NIPA2,TUBGCP5,NIPA1,GOLGA8IP,GOLGA6L1,WHAMMP3,ELMO2P1,GOLGA8DP,MIR4509-1,PDCD6IPP1,RN7SL106P,CYFIP1
bacchelli_20_ASD_discovery_cases-caseAB111
qPCR
Maternal
Simplex
RN7SL106P,ABCB10P1,MIR4509-1,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8DP,WHAMMP3,NIPA1,CYFIP1
bartnik_12_EP_discovery_cases-case5
FISH
Paternal
NIPA2,TUBGCP5,NIPA1,CYFIP1
battaglia_13_DD/ID/ASD_discovery_cases-case27
FISH or qPCR
Paternal
Paternal
Possible multi-generational
Segregated
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
brandler_16_ASD_discovery_cases_case1
Paternal
Unknown
Unknown
TUBGCP5,NIPA1,NIPA2,CYFIP1
brandler_16_ASD_discovery_cases_case2
Paternal
Unknown
Unknown
TUBGCP5,NIPA1,NIPA2,CYFIP1
brandler_18_ASD_discovery_cases-caseSSC02782
SNP VCF
De novo
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
bucan_09_ASD_discovery_cases-patient38
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient39
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient40
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient41
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient42
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient43
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient44
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient45
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient46
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient47
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient48
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient49
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient50
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient51
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient52
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient53
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient54
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient55
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient56
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient57
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient58
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient59
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient60
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient61
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient62
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_discovery_cases-patient63
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_replication_cases-patient16
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
bucan_09_ASD_replication_cases-patient17
qPCR
Unknown
NA
NA
LOC65013, OR4M2, OR4N4
cai_08_ASD_discovery_cases-AU013203
FISH
De novo
Multiplex
Segregated
MKRN3, MAGEL2, NDN
cai_08_ASD_discovery_cases-AU013204
FISH
De novo
Multiplex
Segregated
MKRN3, MAGEL2, NDN
castronovo_14_ASD/DD/EP_discovery_cases-case1
Microsatellite analysis, FISH
De novo
Simplex
Segregated
SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,HERC2P2,WHAMMP3,NIPA1,CYFIP1
celestino-soper_11_ASD_discovery_cases-11149
Solid phase hybridization (Illumina 1M SNP)
De novo
Simplex
NA
HERC2P3
celestino-soper_11_ASD_discovery_cases-11265
Solid phase hybridization (Illumina 1M SNP), qPCR
De novo
Simplex
NA
HERC2P7,RN7SL495P,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
celestino-soper_11_ASD_discovery_cases-11443
Solid phase hybridization (Illumina 1M SNP)
De novo
Simplex
NA
GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,HERC2P3,POTEB2,NF1P9,LINC01193
celestino-soper_12_DD/CHD_discovery_cases-patient6
Unknown (likely inherited)
Unknown
Likely not segregated
GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,HERC2P3,POTEB2,NF1P9,LINC01193
ceylan_18_DD/ID_discovery_cases-case13
De novo
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
chaves_19_ASD/DD/ID_discovery_cases-case130
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
chaves_19_ASD/DD/ID_discovery_cases-case270
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
chaves_24_ASD/DD/ID_discovery_cases-case1068
Unknown
NIPA2,NIPA1,TUBGCP5,WHAMMP3,ELMO2P1,RN7SL495P,CYFIP1
chehbani_22_ASD_discovery_cases-case44
Unknown
Simplex
NBEAP1,IGHD3OR15-3B,IGHD5OR15-5B,OR4H6P,IGHD1OR15-1B,IGHD4OR15-4B,IGHV1OR15-6,IGHD2OR15-2B,IGHV4OR15-8,ABCB10P1,OR11J2P,NIPA2,OR11H3P,OR11J1P,OR11K1P,OR4Q1P,NIPA1,TUBGCP5,OR4N4,GOLGA6L1,HERC2P3,WHAMMP3,IGHV1OR15-1,OR4N3P,OR4M2,NF1P2,OR11J5P,IGHV1OR15-4,IGHV1OR15-3,CXADRP2,SPATA31E2P,GOLGA6L6,BMS1P16,GOLGA8CP,ELMO2P1,GOLGA8DP,POTEB2,MIR1268A,NF1P1,MIR3118-4,MIR4509-1,MIR5701-1,MIR5701-2,GRAMD4P6,GRAMD4P5,POTEB,RNU6-631P,RN7SL759P,RN7SL400P,RNU6-1235P,RNU6-749P,RNU6-498P,RN7SL545P,CYFIP1
chung_11_ASD_discovery_cases-proband
Paternal
Simplex
NA
GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,HERC2P3,POTEB2,NF1P9,LINC01193
chung_11_ASD_discovery_cases-proband
Paternal
Simplex
NA
PWRN3
cucinotta_23_ASD_discovery_cases-case117
Maternal
NIPA2,NIPA1,TUBGCP5,ELMO2P1,CYFIP1
cucinotta_23_ASD_discovery_cases-case177
Maternal
NIPA2,NIPA1,TUBGCP5,ELMO2P1,CYFIP1
cucinotta_23_ASD_discovery_cases-case222
Paternal
NIPA2,NIPA1,TUBGCP5,ELMO2P1,CYFIP1
cucinotta_23_ASD_discovery_cases-case235
Maternal
NIPA2,NIPA1,TUBGCP5,WHAMMP3,ELMO2P1,CYFIP1
cucinotta_23_ASD_discovery_cases-case96
Maternal
PWRN2,PWRN1
davis_09_ASD_discovery_cases-AU001505
Unknown
Unknown
Unknown
LOC283755, A26B1, OR4M2, OR4N4, LOC560137, LOC283767
davis_09_ASD_discovery_cases-AU002105
Unknown
Unknown
Unknown
LOC283755, A26B1, OR4M2, OR4N4
davis_09_ASD_discovery_cases-AU0039303
Unknown
Unknown
Unknown
LOC283755, A26B1, OR4M2, OR4N4, LOC651037
davis_09_ASD_discovery_cases-AU007605
Unknown
Unknown
Unknown
OR4M2, OR4N4, LOC560137, LOC283767, TUBGCP5, CYFIP1
davis_09_ASD_discovery_cases-AU017704
Unknown
Unknown
Unknown
OR4M2, OR4N4
davis_09_ASD_discovery_cases-AU018304
Unknown
Unknown
Unknown
LOC283755, A26B1, OR4M2, OR4N4, LOC651037
davis_09_ASD_discovery_cases-AU022204
Unknown
Unknown
Unknown
LOC283755, A26B1, OR4M2, OR4N4, LOC651037
davis_09_ASD_discovery_cases-AU038303
Unknown
Multiplex
Unknown
LOC283755, A26B1, OR4M2, OR4N4, LOC651037
davis_09_ASD_discovery_cases-AU038703
Unknown
Unknown
Unknown
LOC283755, A26B1, OR4M2, OR4N4
davis_09_ASD_discovery_cases-AU057905
Unknown
Unknown
Unknown
LOC283755, A26B1, OR4M2, OR4N4
davis_09_ASD_discovery_cases-AU067208
Unknown
Unknown
Unknown
LOC283755, A26B1, OR4M2, OR4N4, LOC650137
davis_09_ASD_discovery_cases-AU1105303
Unknown
Unknown
Unknown
LOC283755, A26B1
depienne_09_ASD_discovery_cases-patient5
qPCR, FISH
Paternal
NA
NA
TUBGCP5, CYFIP1, NIPA1, NIPA2
depienne_09_ASD_discovery_cases-patient6
qPCR, FISH
Maternal
NA
NA
TUBGCP5, CYFIP1, NIPA1, NIPA2
depienne_09_ASD_discovery_cases-patient7
qPCR, FISH
Paternal
NA
NA
TUBGCP5, CYFIP1, NIPA1, NIPA2
depienne_09_ASD_discovery_cases-patient8
qPCR, FISH
Maternal
NA
NA
TUBGCP5, CYFIP1, NIPA1, NIPA2
depienne_09_ASD_discovery_cases-patient9
qPCR, FISH
Paternal
NA
NA
TUBGCP5, CYFIP1, NIPA1, NIPA2
digregorio_17_DD/ID_discovery_cases-DECIPHER_300525
qPCR
Maternal
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
doornbos_09_15q11.2_discovery_cases-case1
FISH
De novo
NA
NA
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
doornbos_09_15q11.2_discovery_cases-case2
FISH
De novo
NA
NA
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
doornbos_09_15q11.2_discovery_cases-case3
FISH
Maternal
NA
NA
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
doornbos_09_15q11.2_discovery_cases-case4
FISH
Paternal
NA
NA
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
doornbos_09_15q11.2_discovery_cases-case5
FISH
Paternal
NA
NA
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
doornbos_09_15q11.2_discovery_cases-case6
FISH
Maternal
NA
NA
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
doornbos_09_15q11.2_discovery_cases-case7
FISH
Paternal
NA
NA
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
doornbos_09_15q11.2_discovery_cases-case8
FISH
Paternal
Multiplex (maternal half-brother with mild MR & ASD, maternal half-sister with ASD)
Not segregated
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
doornbos_09_15q11.2_discovery_cases-case9
FISH
Maternal
NA
NA
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
du_21_ASD/DD/ID_discovery_cases-case453
Unknown
NIPA2,NIPA1,TUBGCP5,GOLGA8IP,WHAMMP3,ELMO2P1,PDCD6IPP1,RN7SL495P,CYFIP1
engchuan_15_ASD_discovery_cases-case14226_3600
Unknown
RN7SL536P,GOLGA8S
engchuan_15_ASD_discovery_cases-case16038_1571018001
Unknown
PWRN2
engchuan_15_ASD_discovery_cases-case4163_100
Unknown
PWRN2
engchuan_15_ASD_discovery_cases-case5419_3
Unknown
feliciano_19_ASD_discovery_cases-caseSP0000820
Maternal
NIPA2,TUBGCP5,NIPA1,CYFIP1
null
feliciano_19_ASD_discovery_cases-caseSP0023689
Paternal
Simplex
NIPA2,TUBGCP5,NIPA1,CYFIP1
null
feliciano_19_ASD_discovery_cases-caseSP0038120
Paternal
NIPA2,TUBGCP5,NIPA1,CYFIP1
null
feliciano_19_ASD_discovery_cases-caseSP0040659
Paternal
NIPA2,TUBGCP5,NIPA1,CYFIP1
null
feliciano_19_ASD_discovery_cases-caseSP0042391
Maternal
NIPA2,TUBGCP5,NIPA1,CYFIP1
null
feliciano_19_ASD_discovery_cases-caseSP0046982
Maternal
NIPA2,TUBGCP5,NIPA1,CYFIP1
null
fry_16_DD/ID/EP/ASD_discovery_cases-caseR605
Solid phase hybridization (Illumina)
Paternal
RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,WHAMMP3,NIPA1,CYFIP1
furley_24_ASD/ID_discovery_cases-case1
Unknown
NIPA2,NIPA1,TUBGCP5,WHAMMP3,ELMO2P1,RN7SL495P,CYFIP1
furley_24_ASD/ID_discovery_cases-case4
Unknown
NIPA2,NIPA1,TUBGCP5,WHAMMP3,ELMO2P1,CYFIP1
gai_11_ASD_discovery_cases-AU1466304
Inherited
SNRPN
gannon_11_ASD/DD_discovery_cases-patientN
Unknown
Unknown
NA
gannon_11_ASD/DD_discovery_cases-patientO
Unknown
Unknown
NA
girirajan_11_ASD_discovery_cases-Si1
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si1
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si10
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si10
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si100
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si101
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si101
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si102
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si102
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si102
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si103
Unknown
Simplex
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si103
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si104
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si104
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si104
Unknown
Simplex
OR11H3P
girirajan_11_ASD_discovery_cases-Si106
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si106
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si108
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si108
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si109
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si109
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4
girirajan_11_ASD_discovery_cases-Si11
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si11
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si110
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si110
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8
girirajan_11_ASD_discovery_cases-Si111
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si111
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si113
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si113
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si114
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si114
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si114
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si115
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si116
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si117
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si117
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si118
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si119
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si119
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si12
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si120
Unknown
Simplex
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si120
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si121
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si121
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si122
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si123
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si123
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si124
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si124
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si125
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si126
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_11_ASD_discovery_cases-Si127
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si127
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si127
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_cases-Si128
Unknown
Simplex
OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_11_ASD_discovery_cases-Si129
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si129
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si130
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si130
Unknown
Simplex
OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_11_ASD_discovery_cases-Si131
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si131
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si132
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si132
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si133
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si133
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si135
Unknown
Simplex
OR11H3P
girirajan_11_ASD_discovery_cases-Si136
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si136
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si137
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si137
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si138
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si138
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si139
Unknown
Simplex
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si139
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si14
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si14
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si140
Unknown
Simplex
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si140
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si140
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si141
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si141
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si142
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si142
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si143
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si143
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si144
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si146
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si146
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si148
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si148
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si149
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si15
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si15
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si150
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si150
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si151
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si151
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si152
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si152
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si154
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si154
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_cases-Si155
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si156
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si158
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si158
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si159
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si16
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si16
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si161
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si161
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si162
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si162
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si163
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si163
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si164
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si166
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si166
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si167
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si167
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si168
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si168
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si169
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si17
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si17
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si170
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si170
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si171
Unknown
Simplex
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si171
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si171
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si172
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si172
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si173
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si173
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si174
Unknown
Simplex
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si174
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si174
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si175
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si175
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si176
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si176
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si177
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si177
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si178
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si178
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si179
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si179
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si18
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si18
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si180
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si180
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si180
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_cases-Si181
Unknown
Simplex
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si181
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si181
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si182
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si182
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si182
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si183
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si183
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si184
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si185
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si186
Unknown
Simplex
PWRN2
girirajan_11_ASD_discovery_cases-Si187
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si188
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si188
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si189
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si19
Unknown
Simplex
OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_11_ASD_discovery_cases-Si190
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si190
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si191
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_cases-Si192
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si193
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si194
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si194
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si196
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si197
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si197
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si198
Unknown
Simplex
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si198
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si198
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si199
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si2
Unknown
Simplex
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8
girirajan_11_ASD_discovery_cases-Si20
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si20
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si200
Unknown
Simplex
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si200
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si200
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si201
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si202
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si202
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si203
Unknown
Simplex
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si203
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si206
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si206
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si207
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si207
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si207
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si209
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si209
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si21
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si21
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si210
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si210
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si219
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si22
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si220
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si220
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si220
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si221
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si221
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si222
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si224
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si224
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si225
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si225
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si226
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si226
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si227
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si227
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si228
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si229
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si229
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si23
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si23
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si230
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si230
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si231
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si231
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_cases-Si232
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si232
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si233
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si233
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si234
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si235
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si235
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si236
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si236
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si237
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si237
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si238
Unknown
Simplex
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si238
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si238
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si239
Unknown
Simplex
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si239
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si239
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si243
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si244
Unknown
Simplex
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si244
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si244
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si245
Unknown
Simplex
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si245
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si245
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si247
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si249
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si249
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si25
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si25
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si250
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si250
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si253
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si254
Unknown
Simplex
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si254
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si254
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si255
Unknown
Simplex
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si255
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si256
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si256
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si258
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si260
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si260
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si261
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si262
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si262
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si263
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si263
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si264
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si264
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si267
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si270
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si273
Unknown
Simplex
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si273
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si273
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si274
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si274
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si275
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si276
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si276
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si279
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si280
Unknown
Simplex
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si287
Unknown
Simplex
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si288
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si288
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si289
Unknown
Simplex
OR4Q1P,OR4H6P,OR4M2,OR4N4
girirajan_11_ASD_discovery_cases-Si29
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si290
Unknown
Simplex
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4
girirajan_11_ASD_discovery_cases-Si293
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si295
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si3
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si3
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si30
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si30
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si30
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_cases-Si301
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si302
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si302
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si303
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si305
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si305
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si306
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si308
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si308
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si31
Unknown
Simplex
OR4Q1P,OR4H6P,OR4M2,OR4N4
girirajan_11_ASD_discovery_cases-Si310
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si310
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si311
Unknown
Simplex
OR4Q1P,OR4H6P,OR4M2,OR4N4
girirajan_11_ASD_discovery_cases-Si313
Unknown
Simplex
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si313
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si314
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si314
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si315
Unknown
Simplex
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si315
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si316
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si316
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si317
Unknown
Simplex
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si317
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si317
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si318
Unknown
Simplex
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si318
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si319
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si319
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si320
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si320
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si321
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si321
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si323
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si323
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si324
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si325
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si325
Unknown
Simplex
OR11H3P
girirajan_11_ASD_discovery_cases-Si326
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si326
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si33
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si335
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si335
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si340
Unknown
Simplex
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si340
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si341
Unknown
Simplex
OR4Q1P,OR4H6P,OR4M2,OR4N4
girirajan_11_ASD_discovery_cases-Si342
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si342
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si343
Unknown
Simplex
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si343
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si343
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si344
Unknown
Simplex
OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_cases-Si345
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si345
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si346
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si346
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si348
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si348
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si35
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si35
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si36
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si36
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si37
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si38
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si38
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si39
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si4
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si4
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si40
Unknown
Simplex
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si41
aCGH (Nimblegen 3x720K or Agilent 2x400K)
De novo
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si41
aCGH (Nimblegen 3x720K or Agilent 2x400K)
De novo
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si42
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si42
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si43
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si43
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si44
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si45
Unknown
Simplex
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si45
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si47
Unknown
Simplex
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si47
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si48
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si48
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si49
Unknown
Simplex
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si50
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si51
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si52
Unknown
Simplex
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si52
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si52
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_cases-Si53
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si53
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si53
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si54
Unknown
Simplex
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si54
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si55
Unknown
Simplex
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si56
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si56
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si57
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si57
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si58
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si58
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si59
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si59
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si6
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si60
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si61
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si61
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si62
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_11_ASD_discovery_cases-Si63
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si63
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si64
Unknown
Simplex
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si64
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si64
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si65
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si65
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4
girirajan_11_ASD_discovery_cases-Si66
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si66
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si67
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si67
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si67
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_cases-Si68
Unknown
Simplex
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si68
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si68
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si69
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si69
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si7
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si7
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si70
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si70
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si71
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si72
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si72
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si73
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si73
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si74
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si75
Unknown
Simplex
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si75
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si75
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si76
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si76
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si77
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si77
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si77
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si78
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si78
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si79
Unknown
Simplex
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si79
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si8
Unknown
Simplex
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si8
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si80
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si81
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si81
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si82
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si82
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si82
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_cases-Si83
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si83
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si84
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si84
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si85
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si86
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4
girirajan_11_ASD_discovery_cases-Si88
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si88
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si9
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si9
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si90
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si90
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si91
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si91
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si92
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si92
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_cases-Si93
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si93
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si94
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si94
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si95
Unknown
Simplex
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si95
Unknown
Simplex
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_cases-Si96
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si96
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si97
Unknown
Simplex
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si97
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_11_ASD_discovery_cases-Si99
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_cases-Si99
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
POTEB
girirajan_12_ASD/DD/ID_discovery_cases-case0289
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0290
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0291
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0292
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0293
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0294
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0295
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0296
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0297
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0298
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0299
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0300
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0301
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0302
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0303
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0304
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0305
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0306
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0307
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0308
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0309
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0310
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0311
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0312
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0313
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0314
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0315
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0316
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0317
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0318
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0319
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0320
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0321
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0322
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0323
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0324
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0325
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0326
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0327
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0328
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0329
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0330
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0331
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0332
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0333
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0334
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0335
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0336
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0337
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0338
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0339
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0340
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0341
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0342
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0343
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0344
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0345
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0346
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0347
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0348
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0349
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0350
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0351
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0352
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0353
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0354
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0355
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0356
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0357
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0358
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0359
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0360
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0361
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0362
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0363
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0364
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0365
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0366
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0367
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0368
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0369
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0370
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0371
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0372
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0373
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0374
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0375
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0376
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0377
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0378
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0379
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0380
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0381
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0382
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0383
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0384
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0385
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0386
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0387
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0388
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0389
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0390
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0391
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0392
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0393
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0394
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0395
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0396
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0397
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0398
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0399
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0400
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0401
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0402
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0403
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0404
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0405
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0406
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0407
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0408
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0409
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0410
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0411
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0412
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0413
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0414
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0415
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0416
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0417
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0418
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0419
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0420
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0421
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0422
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0423
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0424
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0425
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0426
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0427
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0428
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0429
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0430
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0431
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0432
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0433
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0434
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0435
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0436
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0437
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0438
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0439
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0440
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0441
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0442
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0443
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0444
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0445
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case0446
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case10538
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case21683
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case27419
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case33128
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case37709
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case63335
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case69285
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_cases-case69470
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_13b_ASD_discovery_cases-10007107879
Unknown
Unknown
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_13b_ASD_discovery_cases-10007107879
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-10609111027
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-11107107914
Unknown
Unknown
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-11107107914
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-11108109456
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-12308109510
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-13107107988
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-13809111107
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-13906105868
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-14307108019
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-14909111141
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-15508109664
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-15910112885
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-16008109701
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8
girirajan_13b_ASD_discovery_cases-16708109743
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-16909111203
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-1709110692
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-17609111227
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-19003100504
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-19003100504
Unknown
Unknown
Unknown
OR4Q1P,OR4H6P,OR4M2
girirajan_13b_ASD_discovery_cases-19405103174
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-19707108103
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-19804100154
Unknown
Unknown
Unknown
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-19804100154
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-20005103253
Unknown
Unknown
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_13b_ASD_discovery_cases-20008109910
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-20207108119
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-20604100546
Unknown
Unknown
Unknown
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-20604100546
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-20708109930
Unknown
Unknown
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-20708109930
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-20708109930
Unknown
Unknown
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_cases-20909111311
Unknown
Unknown
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-20909111311
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-21009111337
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-21009111337
Unknown
Unknown
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_13b_ASD_discovery_cases-21105103264
Unknown
Unknown
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_13b_ASD_discovery_cases-21105103264
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-21409111351
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-21707108167
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-21707108167
Unknown
Unknown
Unknown
OR11H3P
girirajan_13b_ASD_discovery_cases-21907108174
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-21908109957
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-21908109957
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-22004100624
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-22307108194
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-22307108194
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-22505104145
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-2305102574
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-2305102574
Unknown
Unknown
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_cases-23204100689
Unknown
Unknown
Unknown
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-23204100689
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-23405103244
Unknown
Unknown
Unknown
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-23405103244
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-23405103244
Unknown
Unknown
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_cases-23807108268
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-23807108268
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-23807108268
Unknown
Unknown
Unknown
OR11H3P
girirajan_13b_ASD_discovery_cases-2408108893
Unknown
Unknown
Unknown
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-2408108893
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-24609111458
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-24705103861
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-24906106242
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-25105101983
Unknown
Unknown
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-25105101983
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-25105101983
Unknown
Unknown
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_cases-25209111475
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-25504100812
Unknown
Unknown
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4
girirajan_13b_ASD_discovery_cases-25505102977
Unknown
Unknown
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-25505102977
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-25804100823
Unknown
Unknown
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4
girirajan_13b_ASD_discovery_cases-25807108397
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-25807108397
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-26107108401
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-26507108418
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-27705103506
Unknown
Unknown
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4
girirajan_13b_ASD_discovery_cases-28208110205
Unknown
Unknown
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-28208110205
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-28305103475
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-28309111551
Unknown
Unknown
Unknown
PWRN2,PWRN3,PWRN1
girirajan_13b_ASD_discovery_cases-28407108602
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-28504101060
Unknown
Unknown
Unknown
PWRN2
girirajan_13b_ASD_discovery_cases-28504101060
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-28506106267
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-29007108475
Unknown
Unknown
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-29007108475
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-29007108475
Unknown
Unknown
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_cases-29008110245
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-29309111573
Unknown
Unknown
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-29806106231
Unknown
Unknown
Unknown
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-29806106231
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-29905103852
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-29908110268
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-29908110268
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-29909111597
Unknown
Unknown
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-29909111597
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-3007107649
Unknown
Unknown
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_13b_ASD_discovery_cases-3007107649
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-30208110271
Unknown
Unknown
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-30408110274
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-30708110281
Unknown
Unknown
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_13b_ASD_discovery_cases-30708110281
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-31008110295
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-31008110295
Unknown
Unknown
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_cases-31706106451
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-31706106451
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-31906106492
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-32505103937
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-3309110754
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-33105103786
Unknown
Unknown
Unknown
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-33105103786
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-34009111760
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-34009111760
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-3407107669
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-34806106495
Unknown
Unknown
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-34904101211
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-3508108947
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-35408110434
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-35408110434
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4
girirajan_13b_ASD_discovery_cases-35508110435
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-36006106625
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-36006106625
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-36006106625
Unknown
Unknown
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_cases-3605102633
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-3605102633
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-36609111835
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-36805104915
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-36904100666
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-36907108784
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-36909111849
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-37909111873
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-37909111873
Unknown
Unknown
Unknown
OR4Q1P,OR4H6P,OR4M2
girirajan_13b_ASD_discovery_cases-38105103519
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-38108110540
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-38705103315
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-38705103315
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-38806106786
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-39104101431
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-40008110627
Unknown
Unknown
Unknown
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-40008110627
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-40208110630
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-40406106815
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-40906106831
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-41005104435
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-4105102663
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-4106105419
Unknown
Unknown
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-4106105419
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-41504101477
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-41606106664
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-42506106873
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-42805103614
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-43405103622
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-4407107700
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-44106106924
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-45205104773
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-45309112087
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-45805103809
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-45905104126
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-46805104136
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-4709110813
Unknown
Unknown
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-4709110813
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-47306107043
Unknown
Unknown
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_13b_ASD_discovery_cases-47306107043
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-47404100574
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-47604101025
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-47609111962
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-47906107057
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-47906107057
Unknown
Unknown
Unknown
OR4Q1P,OR4H6P,OR4M2
girirajan_13b_ASD_discovery_cases-48204101197
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-48804101682
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-48904101700
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-48904101700
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-49205104198
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-49906107136
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-50104101765
Unknown
Unknown
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_13b_ASD_discovery_cases-50104101765
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-50205104237
Unknown
Unknown
Unknown
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-50205104237
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-50604101832
Unknown
Unknown
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-50604101832
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-50905104265
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-51206107184
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-51604101884
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-52104101908
Unknown
Unknown
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-52104101908
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-52904101932
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-53205104341
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-54304102048
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-55004102321
Unknown
Unknown
Unknown
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-55004102321
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-55104100200
Unknown
Unknown
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-55104100200
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-55605104444
Unknown
Unknown
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-55605104444
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-55704100868
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-5603100206
Unknown
Unknown
Unknown
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-5603100206
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-5606105324
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-56104101183
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-5703100214
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-5703100214
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-57105104492
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-57505104500
Unknown
Unknown
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-57505104500
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-57505104500
Unknown
Unknown
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_cases-57804101558
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-57804101558
Unknown
Unknown
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_13b_ASD_discovery_cases-5903100247
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-5903100247
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-59704102165
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-60104102183
Unknown
Unknown
Unknown
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-60104102183
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-60504102200
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-60704102209
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-607107598
Unknown
Unknown
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_13b_ASD_discovery_cases-60905104617
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-6103100278
Unknown
Unknown
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4
girirajan_13b_ASD_discovery_cases-6103100278
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-61204102229
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-62005104652
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-6208109266
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-63104102826
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-63204102829
Unknown
Unknown
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-63204102829
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-63205104572
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-65004102035
Unknown
Unknown
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-65004102035
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-6503100309
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-67204102376
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-67305104727
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-67804102406
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-70104102471
Unknown
Unknown
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-70104102471
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-70404102480
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-70404102480
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-708108819
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-709110652
Unknown
Unknown
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_13b_ASD_discovery_cases-71104102660
Unknown
Unknown
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-71104102660
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-7806105460
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-7905103425
Unknown
Unknown
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-7905103425
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-7905103425
Unknown
Unknown
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_cases-7908109348
Unknown
Unknown
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_13b_ASD_discovery_cases-7909110929
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-8103100683
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-8203100466
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-8205102886
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-8305102889
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-8405102790
Unknown
Unknown
Unknown
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-8405102790
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-8508109357
Unknown
Unknown
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-8508109357
Unknown
Unknown
Unknown
PWRN2
girirajan_13b_ASD_discovery_cases-8508109357
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-8508109357
Unknown
Unknown
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_cases-8705102962
Unknown
Unknown
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-8705102962
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-8905102822
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-9005102681
Unknown
Unknown
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-9005102681
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-907107601
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-909110667
Unknown
Unknown
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-909110667
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-9105102949
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-9106105625
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-9305102846
Unknown
Unknown
Unknown
PWRN2,PWRN3
girirajan_13b_ASD_discovery_cases-9405102860
Unknown
Unknown
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_13b_ASD_discovery_cases-9405102860
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-9505103679
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-9605102926
Unknown
Unknown
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_cases-9605102926
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_cases-9908109393
Unknown
Unknown
Unknown
LOC100996331,LOC100287399,POTEB
gorker_18_ASD_discovery_cases-case31
Unknown
Unknown
Unknown
PWRN3,PWRN1
granata_25_ASD_discovery_cases-caseA082
Maternal
SNORD107,SNORD108,SNORD64,SNHG14,PWAR5
guo_18_ASD/DD/ID_discovery_cases-caseBK-463-03
aCGH, Sanger sequencing
Maternal
Multiplex
Segregated
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
guo_18_ASD/DD/ID_discovery_cases-caseBK-463-04
aCGH, Sanger sequencing
Maternal
Multiplex
Segregated
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,WHAMMP3,NIPA1,CYFIP1
guo_19_DD/ID_discovery_cases-case26
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
han_22_ASD/DD/ID_discovery_cases-caseY52
Unknown
ABCB10P1,NIPA2,NIPA1,TUBGCP5,GOLGA6L1,ELMO2P1,GOLGA8DP,RN7SL106P,CYFIP1
husson_20_ASD_discovery_cases-case175
ddPCR, QMPSF, or aCGH
Maternal
Simplex
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
husson_20_ASD_discovery_cases-case266
ddPCR, QMPSF, or aCGH
Maternal
Simplex
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
husson_20_ASD_discovery_cases-case277
ddPCR, QMPSF, or aCGH
Unknown
Familial
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
husson_20_ASD_discovery_cases-case298
ddPCR, QMPSF, or aCGH
Unknown
Simplex
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
itsara_10_ASD_discovery_cases-HI0385
aCGH (custom NimbleGen 12 X 135)
De novo
Simplex
MIR4508,MAGEL2,NDN,MKRN3
jiao_19_EP/DD/ID_discovery_cases-case45223
Unknown
Unknown
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
kalsner_17_ASD_discovery_cases-case3
Maternal
Unknown
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,WHAMMP3,NIPA1,CYFIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000411
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL106P,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,WHAMMP3,NIPA1,CYFIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000459
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-741P,PWRN2,PWRN4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000638
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL495P,RN7SL106P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,HERC2P2,WHAMMP3,NIPA1,CYFIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000772
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000777
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
SNRPN
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000823
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL106P,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,WHAMMP3,NIPA1,CYFIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000868
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL106P,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,WHAMMP3,NIPA1,CYFIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000873
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
UBE3A,SNHG14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000942
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL495P,RN7SL106P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,HERC2P2,WHAMMP3,NIPA1,CYFIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001103
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PWRN3,PWRN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001216
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001299
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL495P,RN7SL106P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,HERC2P2,WHAMMP3,NIPA1,CYFIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001578
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001586
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,HERC2P2,WHAMMP3,NIPA1,CYFIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001588
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001702
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001725
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
SNRPN
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001848
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
SNRPN
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001883
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HERC2P7,RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002042
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002724
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002754
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RPL5P1,SNRPN
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002776
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,HERC2P2,WHAMMP3,NIPA1,CYFIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004947
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005241
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NPAP1,PWRN3,PWRN1,SNRPN
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005372
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005687
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL106P,ABCB10P1,MIR4509-1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,NIPA1,CYFIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005688
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL495P,RN7SL106P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,HERC2P2,WHAMMP3,NIPA1,CYFIP1
kanduri_15_ASD_discovery_cases-case1491
Maternal
Unknown
Unknown
CYFIP1,NIPA1,NIPA2,TUBGCP5
kanduri_15_ASD_discovery_cases-case1904
Maternal
Unknown
Unknown
PWRN2 (non-coding RNA, exonic)
kanduri_15_ASD_discovery_cases-case1935
De novo
Unknown
Unknown
SNRPN (intronic)
kanduri_15_ASD_discovery_cases-case2003
Paternal
Unknown
Unknown
CYFIP1,NIPA1,NIPA2,TUBGCP5
kanduri_15_ASD_discovery_cases-case2008
Maternal
Unknown
Unknown
PWRN2 (non-coding RNA, exonic)
koufaris_16_DD/ID_discovery_cases-case1
aCGH (BlueGnome Cytochip ISCA v1.0)
Paternal
Simplex
Unknown
SNRPN
krumm_13_ASD_discovery_cases-case11265.p1
Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
De novo
Simplex
Segregated
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_13_ASD_discovery_cases-case12735.p1
Paternal
Simplex
Segregated
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_13_ASD_discovery_cases-case13393.p1
Paternal
Simplex
Not segregated
NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,NIPA1,CYFIP1
krumm_13_ASD_discovery_cases-case13493.p1
Paternal
Simplex
Segregated
GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,POTEB2,NF1P9,LINC01193
krumm_15_ASD_discovery_cases-case11111.p1
Illumina 1M
Paternal
Simplex
Segregated
NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,NIPA1,CYFIP1
krumm_15_ASD_discovery_cases-case11265.p1
Illumina 1M
De novo
Simplex
Segregated
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_15_ASD_discovery_cases-case11305.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_15_ASD_discovery_cases-case11792.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_15_ASD_discovery_cases-case12311.p1
1M-Duov3
Maternal
Simplex
Segregated
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_15_ASD_discovery_cases-case12608.p1
1M-Duov3
Maternal
Simplex
Segregated
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_15_ASD_discovery_cases-case12665.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_15_ASD_discovery_cases-case12827.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
TUBGCP5,CYFIP1
krumm_15_ASD_discovery_cases-case13072.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,NIPA1,CYFIP1
krumm_15_ASD_discovery_cases-case13367.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_15_ASD_discovery_cases-case13393.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_15_ASD_discovery_cases-case13493.p1
1M-Duov3
Paternal
Simplex
Segregated
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_15_ASD_discovery_cases-case13640.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_15_ASD_discovery_cases-case13644.p1
1M-Duov3
Maternal
Simplex
Segregated
NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,NIPA1,CYFIP1
krumm_15_ASD_discovery_cases-case13771.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_15_ASD_discovery_cases-case13924.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_15_ASD_discovery_cases-case14409.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
RN7SL106P,ABCB10P1,MIR4509-1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,NIPA1,CYFIP1
kucinska_24_ASD_discovery_cases-case4
aCGH or FISH
Unknown (not maternal)
NIPA2,NIPA1,TUBGCP5,WHAMMP3,ELMO2P1,CYFIP1
kushima_18_ASD_discovery_cases-caseASD0134
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,HERC2P2,WHAMMP3,NIPA1,CYFIP1
kushima_18_ASD_discovery_cases-caseASD0480
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
kushima_18_ASD_discovery_cases-caseASD0766
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
RN7SL106P,ABCB10P1,MIR4509-1,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,WHAMMP3,NIPA1,CYFIP1
kushima_18_SCZ_discovery_cases-caseSCZ0593
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
RN7SL106P,ABCB10P1,MIR4509-1,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,WHAMMP3,NIPA1,CYFIP1
kushima_18_SCZ_discovery_cases-caseSCZ0721
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
kushima_18_SCZ_discovery_cases-caseSCZ0824
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
kushima_18_SCZ_discovery_cases-caseSCZ0903
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
kushima_18_SCZ_discovery_cases-caseSCZ0931
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
kushima_18_SCZ_discovery_cases-caseSCZ1012
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
kushima_18_SCZ_discovery_cases-caseSCZ1054
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
kushima_18_SCZ_discovery_cases-caseSCZ1387
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Inherited
Unknown
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
kushima_18_SCZ_discovery_cases-caseSCZ1940
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
RN7SL106P,ABCB10P1,MIR4509-1,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,WHAMMP3,NIPA1,CYFIP1
kushima_18_SCZ_discovery_cases-caseSCZ1947
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,HERC2P2,WHAMMP3,NIPA1,CYFIP1
kushima_18_SCZ_discovery_cases-caseSCZ2039
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,HERC2P2,WHAMMP3,NIPA1,CYFIP1
kushima_18_SCZ_discovery_cases-caseSCZ2508
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,HERC2P2,WHAMMP3,NIPA1,CYFIP1
larson_17_ASD_discovery_cases-case21
Unknown
Unknown
MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,PWRN2,PWRN3,SNURF,PWAR5,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,SNHG14
larson_17_ASD_discovery_cases-case89
Unknown
Unknown
PWRN2
larson_17_ASD_discovery_cases-case90
Unknown
Unknown
PWRN2
larson_17_ASD_discovery_cases-case91
Unknown
Unknown
PWRN2
leblond_12_ASD_replication_cases-Pintocase6319_3
MLPA
Paternal
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
lee_17_ASD/DD/ID/MCA_discovery_cases-case20
Unknown
PWRN2,PWRN3,PWRN1
lesca_12_EP_discovery_cases-caseEA85
Maternal
Unknown
Unknown
PWRN4
levy_11_ASD_discovery_cases-11111.p1
Paternal
Simplex
Possibly segregated
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
levy_11_ASD_discovery_cases-11265.p1
De novo
Simplex
Segregated
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
levy_11_ASD_discovery_cases-11299.p1
Paternal
Simplex
Not segregated
SNRPN
levy_11_ASD_discovery_cases-11305.p1
Paternal
Simplex
Not segregated
RN7SL106P,ABCB10P1,MIR4509-1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,NIPA1,CYFIP1
levy_11_ASD_discovery_cases-11429.p1
Maternal
Simplex
Not segregated
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
levy_11_ASD_discovery_cases-11792.p1
Paternal
Simplex
Segregated
RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,HERC2P2,WHAMMP3,NIPA1,CYFIP1
levy_11_ASD_discovery_cases-12007.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
RN7SL106P,ABCB10P1,MIR4509-1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,NIPA1,CYFIP1
levy_11_ASD_discovery_cases-12332.p1
Paternal
Simplex
Possibly segregated
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
levy_11_ASD_discovery_cases-12499.p1
Maternal
Simplex
Possibly segregated
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
lintas_17_ASD_discovery_cases-case3.2
Validation by visual inspection, RT-PCR, or PCR
Maternal
Multiplex
Not segregated (CNV only observed in 1/2 affected siblings)
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
lionel_13_ASD/SCZ/EP_discovery_cases-proband4
Unknown
Simplex
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
PWRN3
lob_24_ASD_discovery_cases-caseASD127
Unknown
NIPA2,NIPA1,TUBGCP5,WHAMMP3,HERC2P2,ELMO2P1,RN7SL495P,CYFIP1
lob_24_ASD_discovery_cases-caseASD190
Paternal
NIPA2,NIPA1,TUBGCP5,WHAMMP3,HERC2P2,ELMO2P1,RN7SL495P,CYFIP1
lob_24_ASD_discovery_cases-caseASD275
Unknown
NIPA2,NIPA1,TUBGCP5,WHAMMP3,GOLGA8EP,HERC2P2,SPATA31E3P,GOLGA8S,ELMO2P1,HERC2P7,RN7SL106P,RN7SL495P,RN7SL536P,CYFIP1
lob_24_ASD_discovery_cases-caseASD306
Unknown
NIPA2,NIPA1,TUBGCP5,ELMO2P1,CYFIP1
lob_24_ASD_discovery_cases-caseASD9
Unknown
NIPA2,NIPA1,TUBGCP5,WHAMMP3,HERC2P2,ELMO2P1,RN7SL495P,CYFIP1
madrigal_12_ASD_discovery_cases-case1
qPCR
Possibly maternal
Maternal
Multiplex
Segregated
TUBGCP5, CYFIP1, NIPA2, NIPA1
Reduced mRNA expression of TUBGCP5, CYFIP1, NIPA2, and NIPA1
madrigal_12_ASD_discovery_cases-case2
qPCR
Possibly maternal
Maternal
Multiplex
Segregated
TUBGCP5, CYFIP1, NIPA2, NIPA1
Reduced mRNA expression of TUBGCP5, CYFIP1, NIPA2, and NIPA1
maini_18_ASD/DD/ID_discovery_cases-case106
Paternal
Simplex
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
maini_18_ASD/DD/ID_discovery_cases-case108
Paternal
Simplex
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
maini_18_ASD/DD/ID_discovery_cases-case156
De novo
Not simplex
Likely not segregated
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
maini_18_ASD/DD/ID_discovery_cases-case73
Maternal
Simplex
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
maini_18_ASD/DD/ID_discovery_cases-case_unknown35
Paternal
Unknown
Unknown
RN7SL106P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,WHAMMP3,NIPA1,CYFIP1
maini_18_ASD/DD/ID_discovery_cases-case_unknown36
Unknown
Unknown
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
maini_18_ASD/DD/ID_discovery_cases-case_unknown37
Maternal
Unknown
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
martucci_23_ASD_discovery_cases-case11
RT-PCR
Paternal
Simplex
NIPA2,NIPA1,TUBGCP5,WHAMMP3,HERC2P2,ELMO2P1,RN7SL495P,CYFIP1
martucci_23_ASD_discovery_cases-case12
RT-PCR
De novo
Simplex
Segregated
NIPA2,NIPA1,TUBGCP5,WHAMMP3,HERC2P2,ELMO2P1,RN7SL495P,CYFIP1
martucci_23_ASD_discovery_cases-case13
RT-PCR
Paternal
Simplex
NIPA2,NIPA1,TUBGCP5,WHAMMP3,HERC2P2,ELMO2P1,RN7SL495P,CYFIP1
martucci_23_ASD_discovery_cases-case14
RT-PCR
Paternal
NIPA2,NIPA1,TUBGCP5,WHAMMP3,HERC2P2,ELMO2P1,RN7SL495P,CYFIP1
massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam13_P21
Unknown
NIPA2,NIPA1,TUBGCP5,WHAMMP3,ELMO2P1,CYFIP1
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530559
Unknown
OR4H6P,IGHV4OR15-8,NIPA2,OR4Q1P,OR11H3P,OR11K1P,NIPA1,TUBGCP5,GOLGA8IP,OR4N4,GOLGA6L1,WHAMMP3,RPS8P10,IGHV1OR15-1,OR4N3P,OR4M2,HERC2P2,GOLGA8EP,NF1P2,GOLGA6L22,CXADRP2,SPATA31E3P,IGHV1OR15-4,IGHV1OR15-3,LINC02203,ELMO2P1,HERC2P7,ZNF519P3,OR11J7P,OR11J6P,MIR1268A,LONRF2P4,MIR3118-3,MIR3118-4,GRAMD4P6,PDCD6IPP1,MIR5701-2,POTEB,NF1P9,POTEB3,MIR5701-3,OR4N4C,OR4H6BP,RN7SL495P,RNU6-631P,RN7SL545P,OR11K1BP,OR4N3BP,OR1Q1BP,OR4M2B,CYFIP1
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530560
Unknown
OR4H6P,IGHV4OR15-8,ABCB10P1,NIPA2,OR4Q1P,OR11H3P,OR11K1P,NIPA1,TUBGCP5,GOLGA8IP,OR4N4,GOLGA6L1,WHAMMP3,RPS8P10,IGHV1OR15-1,OR4N3P,OR4M2,HERC2P2,GOLGA8EP,NF1P2,GOLGA6L22,SPATA31E3P,IGHV1OR15-4,IGHV1OR15-3,LINC02203,ELMO2P1,GOLGA8DP,HERC2P7,ZNF519P3,OR11J7P,OR11J6P,MIR1268A,MIR3118-4,MIR4509-1,PDCD6IPP1,MIR5701-2,POTEB,NF1P9,MIR5701-3,OR4N4C,OR4H6BP,RN7SL495P,RN7SL106P,RNU6-631P,RN7SL545P,OR11K1BP,OR4N3BP,OR1Q1BP,OR4M2B,CYFIP1
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530562
Unknown
IGHD3OR15-3B,OR4H6P,IGHD4OR15-4B,IGHV4OR15-8,IGHD2OR15-2B,IGHD1OR15-1B,IGHD5OR15-5B,OR11J2P,NIPA2,OR4Q1P,OR11H3P,OR11K1P,NIPA1,TUBGCP5,GOLGA8IP,OR4N4,GOLGA6L1,WHAMMP3,RPS8P10,LINC01193,IGHV1OR15-1,OR4N3P,OR4M2,HERC2P2,GOLGA8EP,OR11J5P,NF1P2,GOLGA6L22,CXADRP2,SPATA31E3P,IGHV1OR15-4,IGHV1OR15-3,LINC02203,FAM30C,BMS1P16,ELMO2P1,HERC2P7,ZNF519P3,POTEB2,OR11J7P,ZNF519P2,OR11J6P,MIR1268A,NBEAP4,NF1P1,LONRF2P4,LONRF2P3,MIR3118-2,MIR3118-3,MIR3118-4,BCAR1P2,GRAMD4P6,PDCD6IPP1,MIR5701-2,GRAMD4P5,MIR5701-1,POTEB,NF1P9,POTEB3,MIR5701-3,OR4N4C,OR4H6BP,RN7SL495P,RNU6-631P,RNU6-749P,RNU6-1235P,RN7SL400P,RNU6-498P,RN7SL545P,OR11K1BP,OR4N3BP,OR1Q1BP,OR4M2B,CYFIP1
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530563
Unknown
NIPA2,NIPA1,TUBGCP5,GOLGA8IP,GOLGA6L1,WHAMMP3,HERC2P2,ELMO2P1,PDCD6IPP1,RN7SL495P,CYFIP1
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530958
Unknown
ABCB10P1,NIPA2,NIPA1,TUBGCP5,GOLGA8IP,GOLGA6L1,WHAMMP3,HERC2P2,GOLGA8EP,GOLGA6L22,SPATA31E3P,IGHV1OR15-4,GOLGA8S,ELMO2P1,GOLGA8DP,HERC2P7,MIR1268A,MIR4509-1,PDCD6IPP1,RN7SL495P,RN7SL106P,RN7SL536P,RN7SL545P,CYFIP1
mitani_21_DD/ID_discovery_cases-caseBAB10573
aCGH and/or ddPCR
De novo
Multiplex
Not segregated
NIPA2,NIPA1,TUBGCP5,GOLGA8IP,WHAMMP3,PDCD6IPP1,CYFIP1
moessner_07_ASD_discovery_cases-case1
Maternal
Simplex
NA
IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,HERC2P3,POTEB2,NF1P9,LINC01193
monteiro_19_ASD_discovery_cases_case13
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
monteiro_19_ASD_discovery_cases_case14
Maternal
Multiplex
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
moreira_14_ASD/EP_discovery_cases-case2
Maternal
Simplex
Unknown
RN7SL106P,ABCB10P1,MIR4509-1,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,WHAMMP3,NIPA1,CYFIP1
morrow_08_ASD_discovery_cases-case1701
Maternal
NA
NA
LOC283755, POTE15, OR4N4
morrow_08_ASD_discovery_cases-case2207
Maternal
NA
NA
3' end of POTE15
morrow_08_ASD_discovery_cases-case2801
Maternal
NA
NA
POTE15, OR4N4, LOC283755
morrow_08_ASD_discovery_cases-case2901
Paternal
NA
NA
LOC283755, POTE15, OR4N4
morrow_08_ASD_discovery_cases-case5501
Maternal
NA
NA
POTE15
morrow_08_ASD_discovery_cases-case6301
Paternal
NA
NA
3' end of OR4N4
mosrati_12_ASD/MR_discovery_cases-caseV6
Unknown
Multiplex
Unknown
GOLGA6L6,POTEB
nagamani_12_ASD/DD/ID_discovery_cases-patient4
Paternal
Multiplex
Not segregated
TUBGCP5, NIPA1, NIPA2, CYFIP1
nakamine_08_ASD_discovery_cases-case1
Unknown
Simplex
Unknown
nguyen_13_DD/ID/MCA/ASD_discovery_cases-258891
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
noor_15_DD/ADHD_discovery_cases-case1
MLPA
Maternal
Multi-generational
Segregated
UBE3A,SNHG14
Increased UBE3A expression in proband's cultured fibroblasts
nord_11_ASD_discovery_cases-223-1
Paternal
SNRPN
oikonomakis_16_ASD_discovery_cases-case22
Paternal
PWRN3,PWRN1
oikonomakis_16_ASD_discovery_cases-case3
De novo
SNRPN
oikonomakis_16_ASD_discovery_cases-case665
Paternal
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
oikonomakis_16_ASD_discovery_cases-case709
Paternal
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
pfundt_16_nonNDD_discovery_cases-case130
Array SNP (Affymetrix CytoScan HD)
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient1
qPCR
Unknown
Multi-generational
Unknown
SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
qPCR
Maternal
Multi-generational
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
qPCR
Maternal
Multi-generational
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient4
qPCR
Maternal
Multi-generational
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient5
qPCR
Paternal
Multi-generational
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient6
Both parents
Multi-generational
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient6
qPCR
Maternal
Multi-generational
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
pinto_10_ASD_discovery_cases-case13043_523
qPCR
Both parents
Simplex
NA
PWRN2 whole
pinto_10_ASD_discovery_cases-case1987_301
Illumina550-Maternal
maternal
NA
NA
HERC2P2,CYFIP1,LOC283767,NIPA2,GOLGA9P,TUBGCP5,WHDC1L1,GOLGA8E,NIPA1
pinto_10_ASD_discovery_cases-case5250_4
qPCR-Paternal,Agilent1M
paternal
Multiplex
Segregated
CYFIP1,LOC283767,NIPA2,GOLGA9P,TUBGCP5,WHDC1L1,NIPA1
pinto_10_ASD_discovery_cases-case5263_3
qPCR
maternal
Simplex (sib with ADHD)
Unknown
CYFIP1, GOLGA9P, LOC283767, NIPA1, NIPA2, TUBGCP5, WHDC1L1
pinto_10_ASD_discovery_cases-case5419_3
Agilent1M-Paternal
paternal
Simplex
NA
pinto_10_ASD_discovery_cases-case5453_4
qPCR-Paternal,Agilent1M
paternal
Simplex
NA
HERC2P2,CYFIP1,LOC283767,NIPA2,GOLGA9P,TUBGCP5,WHDC1L1,NIPA1
pinto_10_ASD_discovery_cases-case6319_3
MLPA-Paternal
paternal
Simplex
NA
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
pinto_14_ASD_discovery_cases2-case14358_4720
Validation not attempted
Maternal
Simplex
Unknown (not tested)
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
pinto_14_ASD_discovery_cases2-case2288_1
qPCR
Maternal
Simplex
(not tested)
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
pinto_14_ASD_discovery_cases2-case4045_1
Validation not attempted
Paternal
Multiplex
Unknown (not tested)
RN7SL106P,ABCB10P1,MIR4509-1,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,WHAMMP3,NIPA1,CYFIP1
pinto_14_ASD_discovery_cases2-case4060_1
Validation not attempted
Maternal
Multiplex
Unknown (not tested)
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
pinto_14_ASD_discovery_cases2-case4431_1
Validation not attempted
Paternal
Simplex
Unknown (not tested)
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
pinto_14_ASD_discovery_cases2-case4541_1
Validation not attempted
Maternal
Simplex
Unknown (not tested)
RN7SL106P,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,WHAMMP3,NIPA1,CYFIP1
pinto_14_ASD_discovery_cases2-case6248_3
MLPA
Paternal
Simplex
Unknown (2 brothers, no DNA)
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
pinto_14_ASD_discovery_cases2-case8117_202
qPCR
Maternal
Multiplex
Unknown (CNV absent in unaffected sibling; unknown if CNV is also present in affected sibling)
RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,HERC2P3,POTEB2,NF1P9,LINC01193
pinto_14_ASD_discovery_cases2-case8430_204
qPCR
De novo
Simplex (affected monozygotic twins)
Segregated (de novo CNV in affected MZ twin, no CNV in unaffected sibling)
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
pinto_14_ASD_discovery_cases2-case9759_201
qPCR
De novo
Unknown
(not tested)
RN7SL106P,ABCB10P1,MIR4509-1,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,WHAMMP3,NIPA1,CYFIP1
poultney_13_ASD_discovery_cases-case00HI1663A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,PWAR5,PWAR6,SNHG14
poultney_13_ASD_discovery_cases-case98HI0027A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,PWAR5,PWAR6,SNHG14
prasad_12_ASD_discovery_cases-case96280L
Unknown
Unknown
Unknown
0 genes
quintela_17_DD/ID_discovery_cases-caseID_159
Maternal
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
quintela_17_DD/ID_discovery_cases-caseID_168
Maternal
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
quintela_17_DD/ID_discovery_cases-caseID_270
Maternal
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
quintela_17_DD/ID_discovery_cases-caseID_322
Unknown
Unknown
NPAP1,PWRN1
quintela_17_DD/ID_discovery_cases-caseID_348
Unknown
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
quintela_17_DD/ID_discovery_cases-caseID_369
Unknown
Unknown
GOLGA6L2
quintela_17_DD/ID_discovery_cases-caseID_466
Unknown
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
reinthaler_14_EP_discovery_cases-caseAVRE10
Unknown
Unknown
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
reinthaler_14_EP_discovery_cases-caseAVRE11
Unknown
Unknown
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
reinthaler_14_EP_discovery_cases-caseAVRE12
Unknown
Unknown
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
reinthaler_14_EP_discovery_cases-caseAVRE13
Unknown
Unknown
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
reinthaler_14_EP_discovery_cases-caseAVRE14
Unknown
Unknown
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
reinthaler_14_EP_discovery_cases-caseGGRE14
Unknown
Unknown
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
reinthaler_14_EP_discovery_cases-caseGGRE15
Unknown
Unknown
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
roberts_13_ASD/DD/ID_discovery_cases-ASDcase7
BACs aCGH or FISH
Maternal
Unknown
Unknown
BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,POTEB3,POTEB,NF1P2,NF1P9
roberts_13_ASD/DD/ID_discovery_cases-ASDcase8
BACs aCGH or FISH
Unknown
Unknown
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase14
BACs aCGH or FISH
Maternal
Unknown
Unknown
NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,NIPA1,CYFIP1
rosenfeld_10_ASD_discovery_cases-case4384
FISH
Maternal
Unknown
Unknown
TUBGCP5,CYFIP1,NIPA2,NIPA1
rosenfeld_10_ASD_discovery_cases-case4627
FISH
Maternal
Unknown
Unknown
TUBGCP5,CYFIP1,NIPA2,NIPA1
sahajpal_23_ASD/DD/ID_discovery_cases-case8
qPCR
Paternal
NIPA2,NIPA1,TUBGCP5,WHAMMP3,GOLGA8EP,HERC2P2,SPATA31E3P,GOLGA8S,ELMO2P1,HERC2P7,RN7SL106P,RN7SL495P,RN7SL536P,CYFIP1
saia_23_TS_discovery_cases-case15
Unknown
NIPA2,NIPA1,TUBGCP5,ELMO2P1,CYFIP1
saia_23_TS_discovery_cases-case19
Unknown
NIPA2,NIPA1,TUBGCP5,ELMO2P1,CYFIP1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1019-0
Not tested by qPCR
Unknown
Unknown
Unknown
PWRN3,PWRN1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1036-0
Not tested by qPCR
Unknown
Unknown
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
salyakina_11_ASD_discovery_cases-17668_001
qPCR
Paternal
Simplex
Segregated
IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A
salyakina_11_ASD_discovery_cases-17668_103
qPCR
Maternal
Simplex
Segregated
IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A
sanders_11_ASD_discovery_cases-11010.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11011.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11041.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11060.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
PWRN2
sanders_11_ASD_discovery_cases-11161.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNHG14
sanders_11_ASD_discovery_cases-11173.p1
Paternal
Simplex (trio)
NA
PWRN1
sanders_11_ASD_discovery_cases-11173.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11187.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11224.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SNORD115-5,SNORD115-6,SNORD115-7,SNHG14
sanders_11_ASD_discovery_cases-11250.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11275.p1
Unknown
Simplex (quad-proband matched)
Segregated
PWRN2
sanders_11_ASD_discovery_cases-11276.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11299.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SNRPN
sanders_11_ASD_discovery_cases-11300.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11303.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11327.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SNORD115-5,SNORD115-6,SNORD115-7,SNHG14
sanders_11_ASD_discovery_cases-11421.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11452.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11458.p1
Maternal
Simplex (quad-proband matched)
Segregated
PWRN2
sanders_11_ASD_discovery_cases-11532.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11571.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNHG14
sanders_11_ASD_discovery_cases-11590.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11665.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11714.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNHG14
sanders_11_ASD_discovery_cases-11715.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNHG14
sanders_11_ASD_discovery_cases-11766.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNHG14
sanders_11_ASD_discovery_cases-11811.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11916.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNHG14
sanders_11_ASD_discovery_cases-11920.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11940.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNHG14
sanders_11_ASD_discovery_cases-11959.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11982.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PWRN2
sanders_11_ASD_discovery_cases-11984.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNHG14
sanders_11_ASD_discovery_cases-12009.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12068.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12073.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12078.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNHG14
sanders_11_ASD_discovery_cases-12102.p1
Unknown
Simplex (trio)
NA
SNHG14
sanders_11_ASD_discovery_cases-12157.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12260.p1
Paternal
Simplex (trio)
NA
SNRPN
sanders_11_ASD_discovery_cases-12360.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12375.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12381.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12607.p1
Maternal
Simplex (trio)
NA
PWRN2
sanders_11_ASD_discovery_cases-12629.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12637.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12650.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PWRN1
sanders_11_ASD_discovery_cases-12787.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SNRPN
sanders_11_ASD_discovery_cases-12817.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12827.p1
Paternal
Simplex (trio)
NA
PWRN2
sanders_11_ASD_discovery_cases-12843.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
PWRN2
sanders_11_ASD_discovery_cases-12955.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13041.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13166.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13388.p1
Paternal
Simplex (trio)
NA
sandoval_talamantes_23_ASD_discovery_cases-caseAUT230
Unknown
NIPA2,NIPA1,WHAMMP3,GOLGA8EP,HERC2P2,SPATA31E3P,GOLGA8S,HERC2P7,RN7SL106P,RN7SL495P,RN7SL536P,CYFIP1
sandoval_talamantes_23_ASD_discovery_cases-caseAUT52
Unknown
SNORD115-13,SNORD115-40,SNORD115-28,SNORD115-9,SNORD115-5,SNORD115-32,SNORD115-20,SNORD115-6,SNORD115-41,SNORD115-34,SNORD115-15,SNORD115-18,SNORD115-27,SNORD115-24,SNORD115-23,SNORD115-29,SNORD115-7,SNORD115-35,SNORD115-31,SNORD115-17,SNORD115-22,SNORD115-11,SNORD115-38,SNORD115-33,SNORD115-12,SNORD115-21,SNORD115-39,SNORD115-8,SNORD115-16,SNORD115-4,SNORD115-19,SNORD115-30,SNORD115-25,SNORD115-26,SNORD115-36,SNORD115-10,SNORD115-14,SNORD115-37,SNHG14
sandoval_talamantes_23_ASD_discovery_cases-caseAUT71
Unknown
NIPA2,NIPA1,WHAMMP3,GOLGA8EP,HERC2P2,SPATA31E3P,GOLGA8S,HERC2P7,RN7SL106P,RN7SL495P,RN7SL536P,CYFIP1
sansovic_17_DD/ID/ASD_discovery_cases-case106
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
sansovic_17_DD/ID/ASD_discovery_cases-case64
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
sansovic_17_DD/ID/ASD_discovery_cases-case92
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
sansovic_17_DD/ID/ASD_discovery_cases-case93
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
sato_12_ASD_discovery_cases_2-family1caseIV-3
Possibly maternal
Unknown
Multiplex (brother with Asperger)
Unknown
SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,HERC2P3,POTEB2,NF1P9,LINC01193
schmidt_24_ASD/DD/ID_discovery_cases-case1370
Unknown
NIPA2,NIPA1,TUBGCP5,WHAMMP3,CYFIP1
schuch_19_ASD_discovery_cases-case7
Unknown
Unknown
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,NIPA1,CYFIP1
servetti_21_ASD/ID/EP_discovery_cases-caseIGGAC15
Maternal
Multiplex
Segregated
NIPA2,NIPA1,TUBGCP5,WHAMMP3,ELMO2P1,PDCD6IPP1,CYFIP1
servetti_21_ASD/ID/EP_discovery_cases-caseIGGAC16
Maternal
Multiplex
Segregated
NIPA2,NIPA1,TUBGCP5,WHAMMP3,ELMO2P1,PDCD6IPP1,CYFIP1
shen_10b_ASD_discovery_cases-caseII:5
Both parents
Simplex
Unknown
OR4M2,OR4N4
shen_10b_ASD_discovery_cases-caseIII:1
Paternal
Maternal
Simplex (ASD), Multiplex (language delay)
Not segregated
GOLGA6L6,POTEB,OR4M2,OR4N4
shen_10_ASD_discovery_cases-ASD-09-057
Paternal
NA
NA
NIPA2,TUBGCP5,NIPA1,CYFIP1
shen_10_ASD_discovery_cases-ASD-09-058
De novo
NA
NA
PDCD6IPP1,NIPA2,TUBGCP5,NIPA1,CYFIP1
shin_15_ASD/DD/ID_discovery_cases-case1
Array SNP (Affymetrix CytoScan 750K)
Unknown
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
shin_15_ASD/DD/ID_discovery_cases-case10
Array SNP (Affymetrix CytoScan 750K)
Unknown
Unknown
RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
siu_16_ASD_discovery_cases-patient2
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
stamouli_18_ASD/NDD_discovery_cases-family70_Twin_2
qPCR
Maternal
Multiplex
Not segregated (CNV not present in affected twin)
NPAP1,PWRN2,PWRN3,PWRN1,SNRPN
streata_22_ASD/DD/ID_discovery_cases-case124
CMA, karyotyping, and/or MLPA
De novo
SNORD109B,SNHG14,UBE3A
streata_22_ASD/DD/ID_discovery_cases-case143
CMA, karyotyping, and/or MLPA
De novo
NIPA2,NIPA1,TUBGCP5,WHAMMP3,HERC2P2,ELMO2P1,RN7SL495P,CYFIP1
streata_22_ASD/DD/ID_discovery_cases-case307
CMA, karyotyping, and/or MLPA
De novo
NIPA2,NIPA1,TUBGCP5,GOLGA6L1,WHAMMP3,ELMO2P1,GOLGA8DP,RN7SL545P,CYFIP1
szatmari_07_ASD_discovery_cases-NAAR046-F11-01C08067
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
PWRN2
tzetis_12_DD/ID_discovery_cases-case48
De novo
Unknown
PWRN3,PWRN1
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
PWRN3
van_den_bossche_12_BPD_discovery_cases-Bas1536
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_BPD_discovery_cases-Bas36
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_BPD_discovery_cases-Bas75
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_BPD_discovery_cases-Sc250
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_BPD_discovery_cases-Sc269
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_BPD_discovery_cases-Sc5537
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_BPD_discovery_cases-Zas6706
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_ID_discovery_cases-Sc307
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_ID_discovery_cases-Sc4266
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_MDD_discovery_cases-Sc3948
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_SCZ_discovery_cases-Das17
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_SCZ_discovery_cases-Sc11495
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_SCZ_discovery_cases-Sc11554
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_SCZ_discovery_cases-Sc11559
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_SCZ_discovery_cases-Sc1587
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_SCZ_discovery_cases-Sc1685
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_SCZ_discovery_cases-Sc3740
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_SCZ_discovery_cases-Sc4554
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_SCZ_discovery_cases-Zas8588
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_SCZ_discovery_cases-Zas8724
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_SCZ_discovery_cases-Zas8961
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_der_zwaag_10_ASD_discovery_cases-proband
FISH & MLPA
Paternal
Possibly mulitplex (half-sister with possible ASD)
Possibly segregated (half-sister with possible ASD has CNV)
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
verberne_22_ASD/DD/ID_discovery_cases-case35
Unknown
NIPA2,NIPA1,TUBGCP5,GOLGA8IP,WHAMMP3,ELMO2P1,PDCD6IPP1,RN7SL495P,CYFIP1
verberne_22_ASD/DD/ID_discovery_cases-case380
Unknown
SNRPN
verberne_22_ASD/DD/ID_discovery_cases-case570
Unknown
ABCB10P1,NIPA2,NIPA1,TUBGCP5,GOLGA6L1,WHAMMP3,ELMO2P1,GOLGA8DP,MIR4509-1,PDCD6IPP1,RN7SL106P,CYFIP1
viggiano_24_ASD_discovery_cases-case117.3
Paternal
Multiplex
Segregated
NIPA2,NIPA1,TUBGCP5,WHAMMP3,ELMO2P1,PDCD6IPP1,CYFIP1
viggiano_24_ASD_discovery_cases-case99.4
Array SNP or WGS
Paternal
Multiplex
Not segregated
NIPA2,NIPA1,TUBGCP5,WHAMMP3,ELMO2P1,PDCD6IPP1,CYFIP1
werling_19_ASD_discovery_cases-caseA010
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
wintle_10_ASD_discovery_cases-AN17138
Solid phase hybridization (Illumina Human 1M-duo)
Unknown
Unknown
Unknown
RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,GOLGA8S,GOLGA6L2,MKRN3,PWRN4
wintle_10_ASD_discovery_cases-AN17138
Solid phase hybridization (Illumina Human 1M-duo)
Unknown
Unknown
Unknown
NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,PWRN3,SNURF,PWAR5,PWRN1,SNRPN,PWAR6,SNHG14
wisniowiecka-kowalnik_12_ASD_discovery_cases-patient6
FISH
Unknown
Unknown
Unknown
RN7SL106P,ABCB10P1,MIR4509-1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,NIPA1,CYFIP1
wolfe_16_ID_discovery_cases-DECIPHER327128
qPCR, FISH, or QF-PCR
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
ye_12_ASD/BPD/MDD/SCZ_discovery_cases-case4
Unknown
Unknown
Unknown
GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,HERC2P3,POTEB2,NF1P9,LINC01193
Upregulated expression of NIPA2
ye_12_ASD/BPD/MDD/SCZ_discovery_cases-case6
Unknown
Unknown
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
Upregulated expression of NIPA2, NIPA1, and LOC283683
ye_12_ASD/BPD/MDD/SCZ_discovery_cases-case7
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
Upregulated expression of NIPA2
yingjun_17_ASD_discovery_cases-case5977
N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Unknown
Unknown
Unknown
TUBGCP5,ELMO2P1,CYFIP1
yingjun_17_ASD_discovery_cases-case5977
N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Unknown
Unknown
Unknown
PDCD6IPP1,NIPA2,WHAMMP3,NIPA1,CYFIP1
yuan_23_ASD_discovery_cases-qma00823s000
De novo
MIR4508
yuen_17_ASD_discovery_cases-case1-0158-012
Not available
Paternal
Multiplex
Not segregated
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
yuen_17_ASD_discovery_cases-case5-0014-004
Affymetrix CytoScanHD
Maternal
Multiplex
Not segregated
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
yuen_17_ASD_discovery_cases-case7-0288-003
Affymetrix CytoScanHD
Unknown
Multiplex
Unknown
RN7SL106P,ABCB10P1,MIR4509-1,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,WHAMMP3,NIPA1,CYFIP1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0804-003
RT-qPCR or WGS
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0809-003
RT-qPCR or WGS
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0844-003
RT-qPCR or WGS
Unknown
SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0903-003
RT-qPCR or WGS
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0903-004
RT-qPCR or WGS
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0947-003
RT-qPCR or WGS
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-1063-003
RT-qPCR or WGS
Paternal
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case10-1005-003
RT-qPCR or WGS
Maternal
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case14-0007-001
RT-qPCR or WGS
Maternal
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case14-0332-001
RT-qPCR or WGS
Maternal
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case14-0332-004
RT-qPCR or WGS
Maternal
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case15AG167
RT-qPCR or WGS
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case178027
RT-qPCR or WGS
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case181220
RT-qPCR or WGS
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1559-003
RT-qPCR or WGS
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1559-004
RT-qPCR or WGS
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case218110
RT-qPCR or WGS
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case218117
RT-qPCR or WGS
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case239576S
RT-qPCR or WGS
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0640-000
RT-qPCR or WGS
Paternal
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0719-000
RT-qPCR or WGS
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0719-001
RT-qPCR or WGS
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case4-0076-003
RT-qPCR or WGS
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case5-0141-003
RT-qPCR or WGS
Maternal
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0168-003
RT-qPCR or WGS
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0221-003
RT-qPCR or WGS
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0286-004
RT-qPCR or WGS
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0288-003
RT-qPCR or WGS
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0293-003
RT-qPCR or WGS
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case9-0004-003
RT-qPCR or WGS
Maternal
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD1125-896863
RT-qPCR or WGS
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10130
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
engchuan_15_ASD_discovery_controls-control110036014918_
Unknown
PWRN2
engchuan_15_ASD_discovery_controls-controlB163688_1007875305
Unknown
IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7
engchuan_15_ASD_discovery_controls-controlB293534_1007842042
Unknown
engchuan_15_ASD_discovery_controls-controlB326294_1007873306
Unknown
PWRN2
engchuan_15_ASD_discovery_controls-controlB437844_1007854382
Unknown
RN7SL536P,GOLGA8S
engchuan_15_ASD_discovery_controls-controlB474177_1007872173
Unknown
engchuan_15_ASD_discovery_controls-controlB520147_1007873599
Unknown
PWRN2
engchuan_15_ASD_discovery_controls-controlB529429_1007872251
Unknown
engchuan_15_ASD_discovery_controls-controlB691484_1007854387
Unknown
0 genes
engchuan_15_ASD_discovery_controls-controlB857546_0067942612
Unknown
0 genes
engchuan_15_ASD_discovery_controls-controlB981427_1007852549
Unknown
0 genes
engchuan_15_ASD_discovery_controls-controlHABC_902642_902642
Unknown
girirajan_11_ASD_discovery_controls-NIMH_01
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_02
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_03
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_03
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_07
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_100
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_100
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_101
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_102
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_102
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_102
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_controls-NIMH_103
Unknown
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_103
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_104
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_104
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_105
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_106
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_106
Unknown
OR4N4,OR4N3P
girirajan_11_ASD_discovery_controls-NIMH_107
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_107
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_controls-NIMH_108
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_109
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_109
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_11
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_110
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_110
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_111
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_111
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_112
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_114
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_115
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_115
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_116
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_116
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,WHAMMP3,NIPA1,CYFIP1
girirajan_11_ASD_discovery_controls-NIMH_117
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_117
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_118
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_118
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_119
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_119
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_120
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_121
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_122
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_122
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_123
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_123
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_123
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_controls-NIMH_124
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_124
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_125
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_125
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_126
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_126
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_127
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_127
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_128
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_128
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_129
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_131
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_131
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_135
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_136
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_137
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_138
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_138
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_139
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_14
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_14
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_141
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_141
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_142
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_143
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_144
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_144
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_145
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_146
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_146
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_147
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_147
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_148
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_149
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_149
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_150
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_150
Unknown
OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_controls-NIMH_152
Unknown
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_153
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_153
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_154
Unknown
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_154
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_154
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_155
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_155
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_155
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_156
Unknown
PWRN2
girirajan_11_ASD_discovery_controls-NIMH_156
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_156
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_157
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_158
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_158
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_159
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_159
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_16
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_160
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_160
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_161
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_161
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_162
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_165
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_165
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_166
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_167
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_168
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_168
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_169
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_169
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_17
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_17
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_170
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_170
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_171
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_171
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_172
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_172
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_173
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_173
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_173
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_174
Unknown
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_174
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_174
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_175
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_176
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_176
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_177
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_177
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_178
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_179
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_180
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_181
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_181
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_182
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_182
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_182
Unknown
OR11H3P
girirajan_11_ASD_discovery_controls-NIMH_183
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_183
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_184
Unknown
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_184
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_184
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_185
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_185
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_185
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_controls-NIMH_186
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_186
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_187
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_187
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_19
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_193
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_193
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_194
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_194
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_195
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_195
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_195
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,HERC2P2,WHAMMP3,NIPA1,CYFIP1
girirajan_11_ASD_discovery_controls-NIMH_196
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_196
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_197
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_197
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_197
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_198
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_198
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_199
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_199
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,WHAMMP3,NIPA1,CYFIP1
girirajan_11_ASD_discovery_controls-NIMH_200
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_200
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_201
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_201
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_201
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_202
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_202
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_202
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_203
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_204
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_204
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_204
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_205
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_205
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_205
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_206
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_206
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_207
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_207
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_208
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_209
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_21
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_21
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_210
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_210
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_211
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_211
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_212
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_212
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_212
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_213
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_213
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_214
Unknown
PWRN3
girirajan_11_ASD_discovery_controls-NIMH_214
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_214
Unknown
OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_controls-NIMH_215
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_215
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_216
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_216
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_218
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_220
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_220
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_221
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_221
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_221
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_controls-NIMH_222
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_222
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_222
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_223
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_223
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_225
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_225
Unknown
PWRN3,PWRN1
girirajan_11_ASD_discovery_controls-NIMH_225
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_225
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_226
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_227
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_227
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_228
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_228
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_229
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_229
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_230
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_230
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_231
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_232
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_232
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_234
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_234
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_235
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_237
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_11_ASD_discovery_controls-NIMH_239
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_239
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_241
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_241
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_243
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_243
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_244
Unknown
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_244
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_244
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_245
Unknown
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_245
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_245
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_controls-NIMH_248
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,NIPA1,CYFIP1
girirajan_11_ASD_discovery_controls-NIMH_252
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_252
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_253
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_253
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_254
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_254
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_255
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_256
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_256
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_256
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_257
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_257
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_258
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_258
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_259
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_259
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_260
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_262
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_263
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_263
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_263
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_controls-NIMH_264
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_265
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_265
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_266
Unknown
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_266
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_267
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_268
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_268
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_269
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_270
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_270
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_271
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_271
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_273
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_273
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_273
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_274
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4
girirajan_11_ASD_discovery_controls-NIMH_275
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_275
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_277
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_278
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_279
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_279
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_279
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_280
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
girirajan_11_ASD_discovery_controls-NIMH_281
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_282
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_11_ASD_discovery_controls-NIMH_284
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_284
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_286
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_286
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_287
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_287
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_288
Unknown
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_288
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_289
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_289
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_29
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_291
Unknown
PWRN3
girirajan_11_ASD_discovery_controls-NIMH_291
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_291
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_293
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_295
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_295
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_296
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_296
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_297
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3
girirajan_11_ASD_discovery_controls-NIMH_299
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_299
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_299
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_30
Unknown
girirajan_11_ASD_discovery_controls-NIMH_300
Unknown
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_301
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_301
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_302
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_302
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_303
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_303
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_304
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_304
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_305
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_305
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_306
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_306
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_307
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_307
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_308
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_308
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_309
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_309
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_310
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_310
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_310
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_311
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_311
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_313
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_313
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_315
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_315
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_320
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_321
Unknown
PWRN4
girirajan_11_ASD_discovery_controls-NIMH_322
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_322
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_327
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_327
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_328
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_328
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_35
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_36
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_36
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_37
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_37
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_37
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_controls-NIMH_39
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_39
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_40
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_40
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_41
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_41
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_42
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_42
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_45
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_50
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_50
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_51
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_51
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4
girirajan_11_ASD_discovery_controls-NIMH_55
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_55
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_62
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_62
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_62
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_11_ASD_discovery_controls-NIMH_64
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_65
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_65
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_66
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_66
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_73
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_73
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_75
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_75
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_75
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_76
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_76
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_77
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_77
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_82
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_82
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_84
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4
girirajan_11_ASD_discovery_controls-NIMH_86
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_86
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_87
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_87
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_88
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_90
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_90
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_91
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_91
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_91
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_92
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4
girirajan_11_ASD_discovery_controls-NIMH_93
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_94
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_95
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_95
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_96
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_96
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_96
Unknown
OR11H3P,OR4Q1P
girirajan_11_ASD_discovery_controls-NIMH_97
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_97
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_99
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_11_ASD_discovery_controls-NIMH_99
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
POTEB
girirajan_11_ASD_discovery_controls-NIMH_99
Unknown
OR11H3P,OR4Q1P
girirajan_12_ASD/DD/ID_discovery_controls-control10
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_controls-control11
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_controls-control12
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_controls-control13
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_controls-control14
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_controls-control15
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_controls-control16
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_controls-control17
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_controls-control18
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_controls-control19
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_controls-control20
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_controls-control21
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_controls-control22
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_controls-control4
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_controls-control5
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_controls-control6
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_controls-control7
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_controls-control8
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_12_ASD/DD/ID_discovery_controls-control9
NA
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
girirajan_13b_ASD_discovery_controls-1008108829
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-1008108829
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-10106105795
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-10203100189
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-10208109404
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-10608109423
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-10608109423
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-107107567
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-10809111031
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-10809111031
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_controls-10905103688
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4
girirajan_13b_ASD_discovery_controls-10905103688
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-10908109454
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-1105102542
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-1105102542
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_13b_ASD_discovery_controls-11105103556
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-11206105836
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-11406105845
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-11406105845
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-11408109472
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-11510113081
Unknown
OR4Q1P,OR4H6P,OR4M2
girirajan_13b_ASD_discovery_controls-11607107933
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-11806105859
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-11910113021
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-11910113021
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-11910113021
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_controls-12105102902
Unknown
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-12105102902
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-12110113024
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-12110113024
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-12110113024
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_controls-12306105910
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-12508109518
Unknown
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-12508109518
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-12907107979
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-12907107979
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_controls-1306105504
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-13703100328
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-13908109580
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-13908109580
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-14403100350
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-14406105966
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-1506105511
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-15110112933
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-15110112933
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-15506105989
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-15607108080
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-16207108108
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-16409111183
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-16503100409
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-16503100409
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-1707107618
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-1707107618
Unknown
OR4Q1P,OR4H6P,OR4M2
girirajan_13b_ASD_discovery_controls-17203100441
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-17203100441
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-18009111237
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-18009111237
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-18808109853
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-19807108141
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-19807108141
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-19807108141
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_controls-20209111301
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-20308109922
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-20308109922
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-20809111324
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-20809111324
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-2105102564
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-22608109991
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-22709111397
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-22709111397
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-23107108218
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-23107108218
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_13b_ASD_discovery_controls-2407107626
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-2407107626
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-24809111471
Unknown
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-24809111471
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-24907108358
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-25205103118
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_13b_ASD_discovery_controls-25207108372
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-25208110101
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-25306106253
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-25306106253
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-25306106253
Unknown
OR11H3P
girirajan_13b_ASD_discovery_controls-26109111483
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-26405103148
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-26707108441
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-26707108441
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4
girirajan_13b_ASD_discovery_controls-2707107646
Unknown
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-2707107646
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-27309111520
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-27706106372
Unknown
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-27706106372
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-28605103511
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-28706106413
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-28706106413
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-28707108689
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-29005103467
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_13b_ASD_discovery_controls-29005103467
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-29409111582
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4
girirajan_13b_ASD_discovery_controls-29509111585
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-29606106442
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-29606106442
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-3008108929
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-3008108929
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-30109111610
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-30109111610
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-306105441
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-306105441
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-306105441
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_controls-30705103901
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-30705103901
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-30706106486
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-308108799
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-31007108543
Unknown
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-3106105582
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-3106105582
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-31207108545
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-32006106507
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-3208108937
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-32208110333
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-32508110343
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-32508110343
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4
girirajan_13b_ASD_discovery_controls-32607108609
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-32907108625
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-33006106538
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-33006106538
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-3306105584
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-3306105584
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-33409111730
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-33505103850
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4
girirajan_13b_ASD_discovery_controls-33907108640
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-34107108649
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-34407108672
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-34408110401
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-34408110401
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-34608110415
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-34707108258
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-3506105586
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-3506105586
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-35208110427
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-36206106646
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-36607108778
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-36607108778
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-37209111863
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-37506106691
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-37506106691
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-37706106741
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-37706106741
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-37904101339
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_13b_ASD_discovery_controls-37906106748
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-38206106769
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4
girirajan_13b_ASD_discovery_controls-38206106769
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-38606106778
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-3907107675
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-39306106798
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-39306106798
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-39506106808
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4
girirajan_13b_ASD_discovery_controls-40005104405
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-40804101794
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-41406106851
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-41406106851
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-41406106851
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_controls-42005103669
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-42106106858
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-42106106858
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-42106106858
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_controls-42606106877
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-42806106886
Unknown
PWRN2,PWRN3,PWRN1
girirajan_13b_ASD_discovery_controls-42806106886
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-43806106913
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-43806106913
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4
girirajan_13b_ASD_discovery_controls-44906106952
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-4506105599
Unknown
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-45304101644
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-45706106971
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-45706106971
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-46006106980
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-46006106980
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-46206106988
Unknown
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-46206106988
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-46406106996
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-46406106996
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-46506107005
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-46506107005
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_controls-47006107031
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-47006107031
Unknown
OR11H3P,OR4Q1P,OR4H6P
girirajan_13b_ASD_discovery_controls-4708108993
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-47809111973
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-48206107078
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-48905104181
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-48909112443
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-48909112443
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-4906105609
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-4906105609
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-49206107109
Unknown
OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-49206107109
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-49406107134
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-49406107134
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-49406107134
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_controls-49604101726
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-50009112516
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-50406107159
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-50406107159
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_13b_ASD_discovery_controls-51006107171
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-51406107186
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-52505104317
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-52509112463
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-52809112566
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-53306107454
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-54305104360
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-54409112506
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-54606107478
Unknown
PWRN2
girirajan_13b_ASD_discovery_controls-54606107478
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-55105104410
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-55209112484
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-56206107529
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-56606107560
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-56606107560
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-58104101657
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-59905104552
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-59905104552
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-59905104552
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_controls-6007107751
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-6007107751
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-60105104570
Unknown
OR4M2,OR4N4,OR4N3P
girirajan_13b_ASD_discovery_controls-606105484
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-606105484
Unknown
OR11H3P,OR4Q1P,OR4H6P,OR4M2
girirajan_13b_ASD_discovery_controls-6106105636
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-6309110867
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-6309110867
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-6309110867
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_controls-63605104696
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-6505102739
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-6608109280
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_13b_ASD_discovery_controls-6608109280
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-66404102339
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-66605104891
Unknown
OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-66605104891
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-67005104902
Unknown
OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-67005104902
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-6808109293
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-68905105387
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-68905105387
Unknown
OR4Q1P,OR4H6P,OR4M2
girirajan_13b_ASD_discovery_controls-70005105416
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4
girirajan_13b_ASD_discovery_controls-7006105686
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-70505105438
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-72204103059
Unknown
OR4Q1P,OR4H6P,OR4M2
girirajan_13b_ASD_discovery_controls-7406105704
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-7907107797
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-8206105715
Unknown
OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P
girirajan_13b_ASD_discovery_controls-8606105736
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-8606105736
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_controls-8808109366
Unknown
OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-8808109366
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-8808109366
Unknown
OR11H3P,OR4Q1P
girirajan_13b_ASD_discovery_controls-8906105747
Unknown
RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A
girirajan_13b_ASD_discovery_controls-8906105747
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-9107107840
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-9306105749
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-9409110993
Unknown
LOC100996331,LOC100287399,POTEB
girirajan_13b_ASD_discovery_controls-9507107845
Unknown
LOC100996331,LOC100287399,POTEB
kanduri_15_ASD_discovery_controls-control_split1095
Unknown
Intergenic CNV: nearest genes, NDN(dist=123038),PWRN2(dist=348429)
kanduri_15_ASD_discovery_controls-control_split130
Unknown
Intergenic CNV: nearest genes, PWRN2(dist=105997),PWRN1(dist=135297)
kanduri_15_ASD_discovery_controls-control_split1720
Unknown
Intergenic CNV: nearest genes, PWRN2(dist=105997),PWRN1(dist=135297)
kanduri_15_ASD_discovery_controls-control_split1863
Unknown
CYFIP1,NIPA1,NIPA2,TUBGCP5
kanduri_15_ASD_discovery_controls-control_split311
Unknown
Intergenic CNV: nearest genes, NDN(dist=123038),PWRN2(dist=351038)
kanduri_15_ASD_discovery_controls-control_split436
Unknown
CYFIP1,NIPA1,NIPA2,TUBGCP5
krumm_13_ASD_discovery_controls-control13393.s1
Paternal
Simplex
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_15_ASD_discovery_controls-control11017.s1
Illumina 1M
Paternal
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_15_ASD_discovery_controls-control11047.s1
Illumina 1M
Maternal
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_15_ASD_discovery_controls-control11073.s1
Illumina 1M
Paternal
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_15_ASD_discovery_controls-control11305.s1
Illumina 1M
Paternal
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_15_ASD_discovery_controls-control11470.s1
Illumina 1MDuo
Maternal
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_15_ASD_discovery_controls-control13393.s1
1M-Duov3
Paternal
NIPA2,TUBGCP5,NIPA1,CYFIP1
krumm_15_ASD_discovery_controls-control14107.s1
Omni2.5-4v1
Maternal
NIPA2,TUBGCP5,NIPA1,CYFIP1
kushima_18_ASD/SCZ_discovery_controls-controlCON0343
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,HERC2P2,WHAMMP3,NIPA1,CYFIP1
kushima_18_ASD/SCZ_discovery_controls-controlCON0345
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
kushima_18_ASD/SCZ_discovery_controls-controlCON0525
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
kushima_18_ASD/SCZ_discovery_controls-controlCON0710
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,WHAMMP3,NIPA1,CYFIP1
kushima_18_ASD/SCZ_discovery_controls-controlCON1413
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
RN7SL106P,ABCB10P1,MIR4509-1,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,WHAMMP3,NIPA1,CYFIP1
kushima_18_ASD/SCZ_discovery_controls-controlCON1822
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
RN7SL106P,ABCB10P1,MIR4509-1,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,WHAMMP3,NIPA1,CYFIP1
levy_11_ASD_discovery_controls-11017.s1
Paternal
Simplex
NA
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
levy_11_ASD_discovery_controls-11047.s1
Maternal
Simplex
NA
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
levy_11_ASD_discovery_controls-11073.s1
Paternal
Simplex
NA
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
levy_11_ASD_discovery_controls-11143.s1
Maternal
Simplex
NA
PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
levy_11_ASD_discovery_controls-11299.s1
Paternal
Simplex
NA
SNRPN
levy_11_ASD_discovery_controls-11305.s1
Paternal
Simplex
NA
RN7SL106P,ABCB10P1,MIR4509-1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,NIPA1,CYFIP1
levy_11_ASD_discovery_controls-11429.s1
Maternal
Simplex
NA
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
levy_11_ASD_discovery_controls-11470.s1
Maternal
Simplex
NA
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
levy_11_ASD_discovery_controls-11470.s2
Maternal
Simplex
NA
NIPA2,TUBGCP5,ELMO2P1,NIPA1,CYFIP1
levy_11_ASD_discovery_controls-11722.s1
Maternal
Simplex
NA
PWRN3,PWRN1
levy_11_ASD_discovery_controls-12326.s1
Paternal
Simplex
NA
PWRN2
reinthaler_14_EP_discovery_controls-control1
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
reinthaler_14_EP_discovery_controls-control2
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
reinthaler_14_EP_discovery_controls-control3
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
reinthaler_14_EP_discovery_controls-control4
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
reinthaler_14_EP_discovery_controls-control5
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
reinthaler_14_EP_discovery_controls-control6
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
reinthaler_14_EP_discovery_controls-control7
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
reinthaler_14_EP_discovery_controls-control8
Unknown
RN7SL495P,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,HERC2P2,WHAMMP3,NIPA1,CYFIP1
sanders_11_ASD_discovery_controls-11010.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11014.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11041.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11161.s1
Paternal
Simplex (quad)
NA
SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNHG14
sanders_11_ASD_discovery_controls-11250.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11275.s1
Paternal
Simplex (quad)
NA
PWRN2
sanders_11_ASD_discovery_controls-11299.s1
Paternal
Simplex (quad)
NA
SNRPN
sanders_11_ASD_discovery_controls-11300.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11316.s1
Maternal
Simplex (quad)
NA
PWRN2
sanders_11_ASD_discovery_controls-11421.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11452.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11480.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11532.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11715.s1
Both parents
Simplex (quad)
NA
SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNHG14
sanders_11_ASD_discovery_controls-11715.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11766.s1
Both parents
Simplex (quad)
NA
SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNHG14
sanders_11_ASD_discovery_controls-11895.s1
Maternal
Simplex (quad)
NA
SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNHG14
sanders_11_ASD_discovery_controls-11909.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11922.s1
Paternal
Simplex (quad)
NA
SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNHG14
sanders_11_ASD_discovery_controls-11959.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11984.s1
Maternal
Simplex (quad)
NA
SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNHG14
sanders_11_ASD_discovery_controls-12032.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12068.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12071.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12073.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12250.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12281.s1
Paternal
Simplex (quad)
NA
PWRN2
sanders_11_ASD_discovery_controls-12284.s1
Paternal
Simplex (quad)
NA
PWRN2
sanders_11_ASD_discovery_controls-12382.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12383.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12644.s1
Paternal
Simplex (quad)
NA
SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNHG14
sanders_11_ASD_discovery_controls-12764.s1
Paternal
Simplex (quad)
NA
PWRN2
sanders_11_ASD_discovery_controls-12799.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13041.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13166.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13169.s1
Paternal
Simplex (quad)
NA
stamouli_18_ASD/NDD_discovery_controls-family53_Twin_1
Unknown
Simplex
NPAP1
van_den_bossche_12_BPD_discovery_controls-Aas311
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_BPD_discovery_controls-Bas1327
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_BPD_discovery_controls-Bas3280
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_BPD_discovery_controls-Bas359
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_BPD_discovery_controls-Bas435
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_BPD_discovery_controls-Berk3029
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_BPD_discovery_controls-Berk3164
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_BPD_discovery_controls_Sc11147
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_ID_discovery_controls-Aas311
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_ID_discovery_controls-Bas1327
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_ID_discovery_controls-Bas3280
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_ID_discovery_controls-Bas359
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_ID_discovery_controls-Bas435
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_ID_discovery_controls-Berk3029
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_ID_discovery_controls-Berk3164
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_ID_discovery_controls_Sc11147
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_MDD_discovery_controls-Aas311
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_MDD_discovery_controls-Bas1327
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_MDD_discovery_controls-Bas3280
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_MDD_discovery_controls-Bas359
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_MDD_discovery_controls-Bas435
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_MDD_discovery_controls-Berk3029
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_MDD_discovery_controls-Berk3164
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_MDD_discovery_controls_Sc11147
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_SCZ_discovery_controls-Aas311
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_SCZ_discovery_controls-Bas1327
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_SCZ_discovery_controls-Bas3280
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_SCZ_discovery_controls-Bas359
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_SCZ_discovery_controls-Bas435
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_SCZ_discovery_controls-Berk3029
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_SCZ_discovery_controls-Berk3164
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_den_bossche_12_SCZ_discovery_controls_Sc11147
Unknown
Unknown
Unknown
NIPA2,TUBGCP5,NIPA1,CYFIP1
van_der_zwaag_10_ASD_discovery_controls_2-control1
Unknown
NA
NA
van_der_zwaag_10_ASD_discovery_controls_2-control2
Unknown
NA
NA
van_der_zwaag_10_ASD_discovery_controls_2-control3
Unknown
NA
NA
van_der_zwaag_10_ASD_discovery_controls_2-control4
Unknown
NA
NA
No Animal Model Data Available