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5p15.33CNV Type: Deletion-Duplication


Largest CNV size: 188718 bp

Statistics Box:
Number of Reports: 37


Summary Information

Summary statement in development

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism 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
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Duplication
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Deletion
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
Deletion
Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation.
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Deletion
Global increases in both common and rare copy number load associated with autism.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
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
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Duplication
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.
Duplication
Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
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
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center
Duplication
NA
Deletion
NA
Duplication
NA
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 akkus_24_ASD/DD/ID_discovery_cases
  NA NA
 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
 563192
 1
 1
 2
 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
 800000
 0
 1
 1
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 20063
 1
 0
 1
 chen_17_ASD_discovery_cases
 Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
 335
 All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
 Mean age, 9.4 4.0 years
 89.25% Male
 512000
 0
 1
 1
 chilian_13_DD/ID_discovery_cases
 Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
 1
 Severe DD/ID, language impairment, behavioral abnormalities
 5 yrs.
 Male
 109511
 1
 0
 1
 cucinotta_23_ASD_discovery_cases
  NA NA
 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
 319897
 0
 1
 1
 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
 202790
 0
 1
 1
 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
 1696085
 0
 1
 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
 301817
 0
 13
 13
 firouzabadi_16_ASD_discovery_cases
 Sporadic ASD cases born to unrelated parents with no family history of ASD, with an additional ASD case with an affected father
 15
 ASD cases met DSM5 criteria and were diagnosed by pediatric neurologists specializing in autism
 N/A
 N/A
 110000
 0
 1
 1
 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.
 
 
 633289
 0
 134
 134
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 792000
 0
 3
 3
 girirajan_13a_DD_discovery_cases
 Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
 31518
 Developmental delay
 NA
 NA
 355790
 0
 5
 5
 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
 344717
 2
 64
 66
 iourov_12_ASD/ID/EP_discovery_cases
 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
 54
 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
 Range, 3 mos.-11 yrs.
 NA
 1159550
 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
 3964668
 9
 2
 11
 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
 30992
 0
 1
 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
 182175
 0
 2
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 408075
 20
 32
 52
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 155589
 0
 1
 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)
 
 
 123000
 0
 2
 2
 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
 298076
 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
 90872
 0
 1
 1
 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
 
 
 112156
 3
 2
 5
 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)
 25836
 0
 2
 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
 195422
 0
 4
 4
 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
 413545
 0
 1
 1
 reis_17_ASD/ID_discovery_cases
 Two siblings (one male, one female) with syndromic ASD who participated in an ongoing exome research study at the Autism Spectrum Disorder Program Clinic of the Psychiatric Institute of the University of Sao Paulo School of Medicine
 2
 The male sibling met criteria for a diagnosis of ASD according to DSM-5 criteria (CARS score 33.5), while the female sibling was diagnosed with intellectual disability and syndromic features (CARS score 24.0)
 Range, 29-33 yrs.
 50% Male
 53806
 1
 0
 1
 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
 108813
 0
 3
 3
 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
 188718
 7
 8
 15
 sandoval_talamantes_23_ASD_discovery_cases
  NA NA
 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
 3671611
 1
 0
 1
 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
 4142000
 1
 1
 2
 sato_12_ASD_discovery_cases_1
 Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
 1614
 Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
 NA
 78.07% Male
 54161
 1
 0
 1
 schaaf_12_ASD/DD/ID_discovery_cases
 22 patients (out of 8051) referred to BCM MCL for aCGH analysis from August 2009-September 2010 with identified intragenic NRXN1 deletions, plus two additional patients recruited who had CMA testing at different laboratories (University of Iowa and Quest Diagnostics)
 24
 ASD (13/24), autistic features (4/24), ADHD (8/22), developmentla delay/intellectual disability (18/21), seizures (11/24), hypotonia (10/24)
 Range, 16 days-30 years (age at diagnosis)
 66.7% Male
 123482
 1
 0
 1
 toma_13_ASD_discovery_cases
 Affected individuals from 10 multiplex ASD families (nine with two affected probands, one with three affected probands)
 21
 Affected individuals met DSM-IV criteria for autism, Asperger disorder or pervasive developmental disorder not otherwise specified (PDD-NOS), assessed using ADI-R (Autism-Diagnostic Interview-Revised) and ADOS-G (Autism Diagnostic Observation Schedule-Generic) diagnostic instruments.
 Range, 4-29 yrs.
 95.24% Male
 107079
 0
 2
 2
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 66930
 1
 0
 1
 vaags_11_ASD_replication_cases_2
 Replication cohort consisting of patients referred to the Mayo Clinic
 1796
 Autism or pervasive developmental disorder (PDD)
 NA
 NA
 100624
 1
 0
 1
 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
 2248396
 1
 0
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 447989
 0
 2
 2

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chen_17_ASD_discovery_controls1
 Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
 Mean age, 68.1 10.1 years
 48.03% Male
 512000
 1
 0
 1
 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
 634867
 3
 14
 17
 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.
 
 
 394732
 2
 99
 101
 girirajan_13a_ASD_discovery_controls3
 Controls assessed for CNVs within 120 SD-mediated hotspots; includes 2090 controls from Wellcome Trust Case-Control Consortium (girirajan_13_ASD_discovery_controls2)
 8329
 Control
 NA
 NA
 0
 0
 0
 0
 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
 239898
 5
 93
 98
 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
 0
 0
 0
 0
 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
 59071
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 267816
 12
 15
 27
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 201863
 0
 1
 1
 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.
 
 40876
 1
 0
 1
 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)
 59075
 0
 5
 5
 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)
 195422
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 306803
 6
 5
 11
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 447989
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 akkus_24_ASD/DD/ID_discovery_cases
  Turkey
 Array SNP
  Affymetrix CytoScan Optima
 
 ThermoFisher ChAS v.3.1.
 
 battaglia_13_DD/ID/ASD_discovery_cases
  Italy
 aCGH, array SNP
  BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
 
 
 FISH, qPCR
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 chen_17_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 RT-qPCR
 chilian_13_DD/ID_discovery_cases
  Germany
 aCGH
  Agilent Human Genome CGH Microarray 244A
 
 
 None
 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
 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
 firouzabadi_16_ASD_discovery_cases
  Iranian
 aCGH
  BlueGnome CytoChip ISCA 8x60K v2.0
 
 BlueFuse Multi v3
 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_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 aCGH (NimbleGen 135K array)
 girirajan_13a_DD_discovery_cases
  NA
 N/A
  N/A
 
 
 None
 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
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 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
 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
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 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
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
  Italy
 aCGH
  Agilent SurePrint G3 4x180K
 ADM-2
 Agilent Cytogenomic Software v2.7
 None
 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)
 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
 reis_17_ASD/ID_discovery_cases
  Brazil
 aCGH
  Agilent 180K
 ADM-2
 Agilent Feature Extraction 10.7.3.1
 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)
 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_1
  Canadian (n=1158) and European (n=456)
 aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
 DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
 
 None
 schaaf_12_ASD/DD/ID_discovery_cases
  Caucasian (n=16), Hispanic (n=5), Caucasian/Hispanic (n=1), Asian (n=1), Ashkenazi Jewish (n=1)
 aCGH
  BCM V8 OLIGO microarray, Nimblegen Nimblechip HG18 oligo array, ClariSure CGH BACs array
 
 
 None
 toma_13_ASD_discovery_cases
  Spanish, Caucasian
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS
 qPCR
 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
 vaags_11_ASD_replication_cases_2
  NA
 aCGH
  Agilent 44K & 244K
 
 
 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)
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  chen_17_ASD_discovery_controls1
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
 
  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_13a_ASD_discovery_controls3
  NA
  Array SNP
  N/A
 
 
  None
  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)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  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
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  akkus_24_ASD/DD/ID_discovery_cases-case76A
  NA NA
 10 yrs.
 F
 Developmental delay and epilepsy
 Developmental delay, epilepsy
 
 113462
 676653
  563192
 GRCh38
 Deletion
 No
  akkus_24_ASD/DD/ID_discovery_cases-case9A
  NA NA
 1 yr.
 F
 Developmental delay/intellectual disability
 Neonatal hypotonia, developmental delay/intellectual disability, hypotonia.
 Developmental delay/intellectual disability
 919381
 1285489
  366109
 GRCh38
 Duplication
 No
  battaglia_13_DD/ID/ASD_discovery_cases-case61
 2 yrs. 2 mos.
 F
 Developmental delay/intellectual disability and epilepsy
 Autism: no. Epilepsy: yes. Dysmorphic features: yes.
 Severe DD/ID
 22178
 821793
  799616
 GRCh38
 Duplication
 Yes
  brandler_18_ASD_replication_cases-case1-0874-003
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 1247217
 1267279
  20063
 GRCh38
 Deletion
 No
  chen_17_ASD_discovery_cases-caseU-2058
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 13 (past score 25); Qualitative abnormalities in verbal and nonverbal communication, current score 6 (past score 15); Qualitative abnormalities in nonverbal communication, current score 0 (past score 7); Restricted, repetitive, and stereotyped patterns of behaviour, current score 6 (past score 9); Abnormality of development evident at or before 36 months, past score 2. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 120; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 48. Epilepsy: no history of epilepsy.
 Performance IQ 98, Verbal IQ 114, Full-scale IQ 107
 1685479
 2197089
  511611
 GRCh38
 Duplication
 Yes
  chilian_13_DD/ID_discovery_cases-case1
 5 yrs.
 M
 Developmental delay/intellectual disability
 Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
 Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
 686177
 795688
  109512
 GRCh38
 Deletion
 No
  cucinotta_23_ASD_discovery_cases-case325
  NA NA
 NA
 NA
 ASD
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 
 279169
 599065
  319897
 GRCh38
 Duplication
 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).
 
 672333
 875123
  202790
 Unknown
 Duplication
 No
  du_21_ASD/DD/ID_discovery_cases-case319
 4 yrs.
 M
 Developmental delay
 Global developmental delay, speech delay, dysmorphic craniofacial features
 
 25328
 1721412
  1696085
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14042_730
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 336837
 541908
  205072
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14042_730
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1637346
 1858207
  220862
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14042_730
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 566667
 601851
  35185
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14218_3510
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1886357
 2069417
  183061
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14253_3760
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1093145
 1394962
  301818
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14403_5120
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1905041
 2066051
  161011
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4161_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40977
 118048
  77072
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4257_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 12225
 143419
  131195
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4360_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 589738
 685633
  95896
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4535_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 58183
 118291
  60109
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5222_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 589738
 685633
  95896
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6228_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 589738
 685633
  95896
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8643_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 1342599
 1394500
  51902
 GRCh38
 Duplication
 No
  firouzabadi_16_ASD_discovery_cases-patient6
 13 yrs.
 M
 ASD
 Case met DSM5 criteria for ASD and was diagnosed by pediatric neurologists specializing in autism. Additional medical history: gastrointestinal problems. Dysmorphic features: dysmorphic facial features.
 Intellectual disability
 710409
 820331
  109923
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si105
 10
 M
 Autism
 ADOS score: 6. Vineland composite score: 78.
 No mental retardation/intellectual disability. Full-scale IQ, 130; Verbal IQ, 110; Non-verbal IQ, 134.
 664257
 795978
  131722
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si107
 10
 M
 Autism
 ADOS score: 6. Vineland composite score: 89.
 No mental retardation/intellectual disability. Full-scale IQ, 130; Verbal IQ, 123; Non-verbal IQ, 127.
 666268
 795978
  129711
 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.
 666268
 761130
  94863
 GRCh38
 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.
 664257
 761130
  96874
 GRCh38
 Duplication
 No
  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.
 664257
 761130
  96874
 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.
 664257
 795978
  131722
 GRCh38
 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.
 664257
 795978
  131722
 GRCh38
 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.
 692772
 834140
  141369
 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.
 664257
 795978
  131722
 GRCh38
 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.
 661715
 865672
  203958
 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.
 664257
 795978
  131722
 GRCh38
 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.
 677751
 795978
  118228
 GRCh38
 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.
 664257
 795978
  131722
 GRCh38
 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.
 677751
 795978
  118228
 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.
 661715
 865672
  203958
 GRCh38
 Duplication
 No
  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.
 664257
 795978
  131722
 GRCh38
 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.
 664257
 795978
  131722
 GRCh38
 Duplication
 Yes
  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.
 664257
 761130
  96874
 GRCh38
 Duplication
 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.
 664257
 795978
  131722
 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.
 728025
 834140
  106116
 GRCh38
 Duplication
 No
  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.
 728025
 821249
  93225
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si145
 15
 M
 Autism
 ADOS score: 9. Vineland composite score: 70.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 37; Non-verbal IQ, 68.
 664257
 860393
  196137
 GRCh38
 Duplication
 No
  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.
 728025
 821249
  93225
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si147
 11
 M
 Autism
 ADOS score: 6. Vineland composite score: 67.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 47; Non-verbal IQ, 60.
 664257
 761130
  96874
 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.
 664257
 795978
  131722
 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.
 664257
 795978
  131722
 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.
 661715
 795978
  134264
 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.
 664257
 795978
  131722
 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.
 664257
 795978
  131722
 GRCh38
 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.
 661715
 866220
  204506
 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.
 664257
 795978
  131722
 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.
 664257
 795978
  131722
 GRCh38
 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.
 664257
 795978
  131722
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si165
 14
 M
 Autism
 ADOS score: 8. Vineland composite score: 76.
 No mental retardation/intellectual disability. Full-scale IQ, 102; Verbal IQ, 98; Non-verbal IQ, 127.
 664257
 816697
  152441
 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.
 664257
 795978
  131722
 GRCh38
 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.
 677751
 795978
  118228
 GRCh38
 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.
 664257
 761130
  96874
 GRCh38
 Duplication
 No
  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.
 664257
 795978
  131722
 GRCh38
 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.
 664257
 795978
  131722
 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.
 664257
 761130
  96874
 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.
 664257
 795978
  131722
 GRCh38
 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.
 677751
 795978
  118228
 GRCh38
 Duplication
 Yes
  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.
 664257
 795978
  131722
 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.
 664257
 795978
  131722
 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.
 692772
 834140
  141369
 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.
 661715
 795978
  134264
 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.
 677751
 795978
  118228
 GRCh38
 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.
 664257
 795978
  131722
 GRCh38
 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.
 661715
 795978
  134264
 GRCh38
 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.
 664257
 761130
  96874
 GRCh38
 Duplication
 No
  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.
 664257
 795978
  131722
 GRCh38
 Duplication
 Yes
  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.
 677751
 795978
  118228
 GRCh38
 Duplication
 Yes
  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.
 661715
 865672
  203958
 GRCh38
 Duplication
 No
  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.
 664257
 795978
  131722
 GRCh38
 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.
 664257
 795978
  131722
 GRCh38
 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.
 661715
 795978
  134264
 GRCh38
 Duplication
 Yes
  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.
 664257
 795978
  131722
 GRCh38
 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.
 728025
 821467
  93443
 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.
 664257
 795978
  131722
 GRCh38
 Duplication
 Yes
  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.
 664257
 865672
  201416
 GRCh38
 Duplication
 No
  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.
 666268
 821467
  155200
 GRCh38
 Duplication
 No
  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.
 664257
 761130
  96874
 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.
 664257
 761130
  96874
 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.
 677751
 795978
  118228
 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.
 661715
 834140
  172426
 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.
 664257
 795978
  131722
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si24
 14
 F
 Autism
 ADOS score: 10. Vineland composite score: 87.
 No mental retardation/intellectual disability. Full-scale IQ, 82; Verbal IQ, 102; Non-verbal IQ, 74.
 664257
 795978
  131722
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si241
 13
 M
 Autism
 ADOS score: 8. Vineland composite score: 61.
 Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 67; Non-verbal IQ, 56.
 664257
 795978
  131722
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si246
 18
 M
 Autism
 ADOS score: NA. Vineland composite score: 59.
 No mental retardation/intellectual disability. Full-scale IQ, 119; Verbal IQ, 117; Non-verbal IQ, 118.
 664257
 795978
  131722
 GRCh38
 Duplication
 Yes
  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.
 664257
 795978
  131722
 GRCh38
 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.
 664257
 865672
  201416
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si252
 13
 M
 Autism
 ADOS score: 8. Vineland composite score: 78.
 No mental retardation/intellectual disability. Full-scale IQ, 94; Verbal IQ, 106; Non-verbal IQ, 89.
 664257
 795978
  131722
 GRCh38
 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.
 661715
 795978
  134264
 GRCh38
 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.
 664257
 795978
  131722
 GRCh38
 Duplication
 Yes
  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.
 664257
 795978
  131722
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si26
 8
 M
 Autism
 ADOS score: 6. Vineland composite score: 92.
 No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 106; Non-verbal IQ, 109.
 664257
 865672
  201416
 GRCh38
 Duplication
 No
  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.
 728025
 834140
  106116
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si27
 17
 M
 Autism
 ADOS score: 7. Vineland composite score: 65.
 No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 93; Non-verbal IQ, 110.
 664257
 865672
  201416
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si28
 11
 M
 Autism
 ADOS score: 7. Vineland composite score: 69.
 No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 69; Non-verbal IQ, 87.
 661715
 795978
  134264
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si282
 10
 M
 Autism
 ADOS score: 6. Vineland composite score: 63.
 Severe mental retardation/intellectual disability. Full-scale IQ, 35; Verbal IQ, 24; Non-verbal IQ, 41.
 664257
 816697
  152441
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si284
 11
 M
 Autism
 ADOS score: 9. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 106; Non-verbal IQ, 92.
 661715
 816697
  154983
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si285
 12
 M
 Autism
 ADOS score: 9. Vineland composite score: 87.
 Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 57; Non-verbal IQ, 77.
 661715
 795978
  134264
 GRCh38
 Duplication
 Yes
  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.
 661715
 761130
  99416
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si292
 14
 M
 Autism
 ADOS score: 9. Vineland composite score: 72.
 No mental retardation/intellectual disability. Full-scale IQ, 103; Verbal IQ, 100; Non-verbal IQ, 105.
 728025
 834140
  106116
 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.
 661715
 816697
  154983
 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.
 664257
 795978
  131722
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si296
 18
 M
 Autism
 ADOS score: NA. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 141; Verbal IQ, 143; Non-verbal IQ, 132.
 664257
 816697
  152441
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si297
 7
 M
 Autism
 ADOS score: 8. Vineland composite score: 74.
 Mild mental retardation/intellectual disability. Full-scale IQ, 69; Verbal IQ, 79; Non-verbal IQ, 62.
 664257
 816697
  152441
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si298
 18
 M
 Autism
 ADOS score: 8. Vineland composite score: 48.
 Mild mental retardation/intellectual disability. Full-scale IQ, 56; Verbal IQ, 23; Non-verbal IQ, 82.
 664257
 816697
  152441
 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.
 664257
 761130
  96874
 GRCh38
 Duplication
 No
  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.
 666268
 834140
  167873
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si300
 8
 M
 Autism
 ADOS score: 5. Vineland composite score: 86.
 No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 114; Non-verbal IQ, 103.
 664257
 816697
  152441
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si304
 12
 M
 Autism
 ADOS score: 7. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 76; Verbal IQ, 48; Non-verbal IQ, 94.
 661715
 795978
  134264
 GRCh38
 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.
 664257
 761130
  96874
 GRCh38
 Duplication
 No
  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.
 664257
 795978
  131722
 GRCh38
 Duplication
 Yes
  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.
 677751
 795978
  118228
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si32
 7
 M
 Autism
 ADOS score: 6. Vineland composite score: 100.
 No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 85; Non-verbal IQ, 115.
 664257
 821467
  157211
 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.
 664257
 795978
  131722
 GRCh38
 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.
 728025
 834140
  106116
 GRCh38
 Duplication
 No
  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.
 661715
 865672
  203958
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si34
 10
 M
 Autism
 ADOS score: 10. Vineland composite score: 74.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 55; Verbal IQ, 63; Non-verbal IQ, 55.
 664257
 795978
  131722
 GRCh38
 Duplication
 Yes
  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.
 664257
 761130
  96874
 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.
 666268
 761130
  94863
 GRCh38
 Duplication
 Yes
  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.
 666268
 761130
  94863
 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.
 666268
 761130
  94863
 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.
 661715
 795978
  134264
 GRCh38
 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.
 666268
 795978
  129711
 GRCh38
 Duplication
 No
  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.
 664257
 761130
  96874
 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.
 666268
 795978
  129711
 GRCh38
 Duplication
 No
  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.
 666268
 834140
  167873
 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.
 666268
 795978
  129711
 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.
 666268
 795978
  129711
 GRCh38
 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.
 664257
 761130
  96874
 GRCh38
 Duplication
 No
  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.
 664257
 795978
  131722
 GRCh38
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si5
 8
 M
 Autism
 ADOS score: 8. Vineland composite score: 63.
 No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 92; Non-verbal IQ, 81.
 664257
 760715
  96459
 GRCh38
 Duplication
 No
  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.
 666268
 761130
  94863
 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.
 692772
 851572
  158801
 GRCh38
 Duplication
 No
  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.
 664257
 795978
  131722
 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.
 666268
 761130
  94863
 GRCh38
 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.
 661715
 795978
  134264
 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.
 661715
 834140
  172426
 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.
 664257
 834140
  169884
 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.
 666268
 795978
  129711
 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.
 664257
 795978
  131722
 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.
 661715
 795978
  134264
 GRCh38
 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.
 666268
 761130
  94863
 GRCh38
 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.
 666268
 795978
  129711
 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.
 664257
 761130
  96874
 GRCh38
 Duplication
 No
  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.
 677751
 795978
  118228
 GRCh38
 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.
 664257
 795978
  131722
 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.
 317377
 950666
  633290
 GRCh38
 Duplication
 No
  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.
 692772
 834140
  141369
 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.
 664257
 795978
  131722
 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.
 664257
 761130
  96874
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-12376.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 316213
 672003
  355791
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-12991.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 2376886
 3166886
  790001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-14098.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 816885
 1096885
  280001
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase107
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 316213
 672003
  355791
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase108
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 316213
 672003
  355791
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase109
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 316213
 672003
  355791
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase110
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 316213
 672003
  355791
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase111
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 316213
 672003
  355791
 GRCh38
 Duplication
 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
 677751
 795978
  118228
 GRCh38
 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
 315920
 416420
  100501
 GRCh38
 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
 666268
 761130
  94863
 GRCh38
 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
 664257
 761130
  96874
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-16709111253
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 661715
 795978
  134264
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-16709111253
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 453812
 548200
  94389
 GRCh38
 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
 664257
 795978
  131722
 GRCh38
 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
 554034
 604210
  50177
 GRCh38
 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
 664257
 795978
  131722
 GRCh38
 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
 666268
 834140
  167873
 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
 692772
 816697
  123926
 GRCh38
 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
 692772
 834140
  141369
 GRCh38
 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
 692772
 834140
  141369
 GRCh38
 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
 677751
 795978
  118228
 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
 306596
 374369
  67774
 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
 453812
 548200
  94389
 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
 664257
 761130
  96874
 GRCh38
 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
 664257
 795978
  131722
 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
 664257
 834140
  169884
 GRCh38
 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
 666268
 795978
  129711
 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
 664257
 851572
  187316
 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
 664257
 795978
  131722
 GRCh38
 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
 664257
 834140
  169884
 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
 664257
 795978
  131722
 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
 1162701
 1216803
  54103
 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
 1052477
 1115221
  62745
 GRCh38
 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
 692772
 834140
  141369
 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
 664257
 795978
  131722
 GRCh38
 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
 664257
 795978
  131722
 GRCh38
 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
 661715
 795978
  134264
 GRCh38
 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
 677751
 795978
  118228
 GRCh38
 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
 664257
 795978
  131722
 GRCh38
 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
 677751
 795978
  118228
 GRCh38
 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
 692772
 834140
  141369
 GRCh38
 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
 664257
 834140
  169884
 GRCh38
 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
 666268
 795978
  129711
 GRCh38
 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
 692772
 884837
  192066
 GRCh38
 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
 664257
 761130
  96874
 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
 692772
 834140
  141369
 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
 664257
 795978
  131722
 GRCh38
 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
 664257
 834140
  169884
 GRCh38
 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
 664257
 761130
  96874
 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
 664257
 795978
  131722
 GRCh38
 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
 692772
 834140
  141369
 GRCh38
 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
 692772
 821467
  128696
 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
 677751
 795978
  118228
 GRCh38
 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
 666268
 795978
  129711
 GRCh38
 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
 666268
 795978
  129711
 GRCh38
 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
 956111
 1300828
  344718
 GRCh38
 Deletion
 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
 666268
 795978
  129711
 GRCh38
 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
 692772
 834140
  141369
 GRCh38
 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
 661715
 865672
  203958
 GRCh38
 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
 466562
 548200
  81639
 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
 692772
 834140
  141369
 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
 664257
 795978
  131722
 GRCh38
 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
 1174445
 1229133
  54689
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-8505102895
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 664257
 795978
  131722
 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
 692772
 834140
  141369
 GRCh38
 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
 664257
 795978
  131722
 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
 666268
 795978
  129711
 GRCh38
 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
 664257
 795978
  131722
 GRCh38
 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
 677751
 795978
  118228
 GRCh38
 Duplication
 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
 664257
 795978
  131722
 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
 728025
 834140
  106116
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-9907107878
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 664257
 795978
  131722
 GRCh38
 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
 692772
 834140
  141369
 GRCh38
 Duplication
 No
  iourov_12_ASD/ID/EP_discovery_cases-case42
 7 yrs.
 F
 Developmental delay
 Speech delay, high-arched palate, single transverse palmar crease, small teeth. Karyotype: 15phqh+.
 Cognitive delay
 403222
 1562772
  1159551
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000357
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22149
 1826256
  1804108
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000880
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22149
 3404244
  3382096
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000989
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 629340
 820360
  191021
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001051
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 49978
 4014647
  3964670
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001052
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 138272
 710438
  572167
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001715
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22149
 3556942
  3534794
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002330
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 316478
 937457
  620980
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002622
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 37694
 2746908
  2709215
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002762
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 37694
 2913205
  2875512
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004054
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22149
 138331
  116183
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004084
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21949
 138472
  116524
 GRCh38
 Deletion
 Yes
  kanduri_15_ASD_discovery_cases-case1925
 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.
 
 567246
 598237
  30992
 Unknown
 Duplication
 No
  krumm_13_ASD_discovery_cases-case12373.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12373. SRS score of 90.
 Full-scale IQ (FSIQ) score N/A.
 618989
 801164
  182176
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case13293.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13293. SRS score of 90.
 Full-scale IQ (FSIQ) score of 83.
 618989
 644425
  25437
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11064.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 814728
 821930
  7203
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11142.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11164.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11241.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11339.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11378.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11391.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11445.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11485.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11581.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11583.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11612.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11617.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11733.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11869.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11990.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12031.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12102.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12106.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12115.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12223.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12275.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12341.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12373.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 618989
 644425
  25437
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12517.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12597.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12610.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12619.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 140307
 271821
  131515
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12842.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12950.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13000.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13034.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13067.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 612361
 644425
  32065
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13075.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13123.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 886591
 1294666
  408076
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13177.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 814728
 821930
  7203
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13359.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 814728
 821930
  7203
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13491.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13527.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 814728
 821930
  7203
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13601.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13748.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13757.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 814728
 821930
  7203
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13783.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 814728
 821930
  7203
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13801.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13810.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13825.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13882.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13918.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14037.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14098.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 865413
 1094248
  228836
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14104.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 814728
 821930
  7203
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14213.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 140307
 205958
  65652
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-12499.p1
 NA
 M
 ASD
 NA
 NA
 1726226
 1881815
  155590
 GRCh38
 Duplication
 No
  morrow_08_ASD_discovery_cases-case5901
 NA
 
 ASD
 NA
 NA
 2349000
 2350000
  1000
 Unknown
 Duplication
 No
  morrow_08_ASD_discovery_cases-case8601
 NA
 
 ASD
 NA
 NA
 752000
 875000
  123000
 Unknown
 Duplication
 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)
 101534
 399610
  298076
 Unknown
 Deletion
 No
  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)
 715642
 806514
  90873
 GRCh38
 Duplication
 No
  pinto_10_ASD_discovery_cases-case5222_3
 NA
 M
 ASD
 NA
 NA
 589738
 685633
  95896
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5268_3
 NA
 M
 ASD
 NA
 NA
 783022
 893717
  110696
 Unknown
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5390_3
 NA
 M
 ASD
 NA
 NA
 806256
 918411
  112156
 Unknown
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5394_3
 NA
 M
 ASD
 NA
 NA
 806256
 893717
  87462
 Unknown
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5407_3
 NA
 M
 ASD
 NA
 NA
 783022
 878338
  95317
 Unknown
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case98HI0391A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU003304; NDAR ID NDAR_INVTT086DLY)
 
 850379
 876214
  25836
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI1053A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU030604; NDAR ID NDAR_INVVH189XCE)
 
 1052358
 1063977
  11620
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case157610
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 4277812
 4347394
  69583
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case60662-L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 1129806
 1325227
  195422
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case74431
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 607074
 671219
  64146
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case78391
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 607074
 663247
  56174
 Unknown
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_44
 12 yrs.
 M
 Intellectual disability
 Partial agenesis of the corpus callosum, subependymal heterotopias
 Intellectual disability
 2908418
 3321962
  413545
 GRCh38
 Duplication
 No
  reis_17_ASD/ID_discovery_cases-case1
 33 yrs.
 M
 ASD and intellectual disability
 Case met criteria for a diagnosis of ASD according to DSM-5, CARS score of 33.5. Birth/neonatal history: uneventful pregnancy and vaginal delivery without complications; birth weight or length not available. Developmental milestones: case had spoken individual words only after 2 years of age and had stopped producing any words at all by 4 years of age; first steps at 2 years of age. Language and communication evaluation: able to understand simple commands, difficulty obeying some commands; absent speech (non-verbal, guttural sounds and screams are present), absence of functional communication. Motor and musculoskeletal evaluation: large hands, clinodactyly, large feet, kyphoscoliosis, symmetric but slightly diminished deep reflexes, discrete hypotonia, gait was symmetric with large steps. Behavioral/psychiatric evaluation: irritability (mainly in the morning), occasional autoaggressive or outwardly directed aggressive behavior; stereoypic movements, did not sustain eye contact or initiate interaction, agitation, unmotivated laughter, inappropriate social contact. Dysmorphic features: macrocephaly, long face, low posterior hairline, arched eyebrows, long eyelashes, wide nasal bridge, crowded teeth, low-set ears, malformed ears, widely spaced nipples. Growth parameters: height 190 cm, weight 95.8 cm, OFC 60 cm. Karyotype: case has a paternally-inherited balanced translocation [der(8)t(4;8)(p16.3;p23.1). Family history: born to nonconsanguineous parents; no family history of ASD, other psychiatric disorders, intellectual disability, or malformations.
 Diagnosed with intellectual disability in 1992
 723079
 776885
  53807
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1342-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 711258
 820070
  108813
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-417a1
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 107075
 143419
  36345
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-037
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 1781931
 1813454
  31524
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11017.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 132; non-verbal IQ, 136; verbal IQ, 116
 2782473
 2789818
  7346
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11049.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
 20747
 209350
  188604
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11196.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 117; verbal IQ, 106
 12225
 40977
  28753
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11584.p1
 11.5
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 75; verbal IQ, 73
 2041551
 2066051
  24501
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11620.p1
 16.5
 M
 ASD
 NA
 Full-scale IQ, 102; non-verbal IQ, 119; verbal IQ, 110
 484031
 492807
  8777
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11724.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 56; verbal IQ, 67
 2041551
 2068377
  26827
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11978.p1
 9.1
 F
 ASD
 NA
 Full-scale IQ, 111; non-verbal IQ, 109; verbal IQ, 113
 12225
 59265
  47041
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12266.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
 177149
 233457
  56309
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12369.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 59; verbal IQ, 50
 2041551
 2056472
  14922
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12499.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 67; verbal IQ, 56
 1730522
 1872215
  141694
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12548.p1
 11.9
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 113; verbal IQ, 76
 1908908
 1956995
  48088
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12619.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 87; verbal IQ, 87
 2171950
 2191323
  19374
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12624.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 47; verbal IQ, 27
 566667
 601851
  35185
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12787.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 130; verbal IQ, 88
 2041551
 2066051
  24501
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13162.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 78; verbal IQ, 72
 2041551
 2064855
  23305
 GRCh38
 Deletion
 No
  sandoval_talamantes_23_ASD_discovery_cases-caseAUT52
  NA NA
 NA
 NA
 ASD
 Case met DSM-5 diagnostic criteria for ASD. Case also presented with developmental delay, hypotonia, and hearing loss.
 
 204733
 3876343
  3671611
 GRCh38
 Deletion
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case65
 13 yrs.
 F
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
 
 22149
 4163793
  4141645
 GRCh38
 Deletion
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case91
 1 yr.
 M
 Congenital anomalies
 Congenital anomalies, Dysmorphism
 
 22149
 2447578
  2425430
 GRCh38
 Duplication
 No
  sato_12_ASD_discovery_cases_1-family1caseIII-5
 32 yrs.
 M
 Asperger
 Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
 Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
 722879
 777039
  54161
 GRCh38
 Deletion
 No
  schaaf_12_ASD/DD/ID_discovery_cases-caseI4
 6 years
 M
 PDD-NOS
 Autism: PDD-NOS. ADHD: Yes. Developmental milestones: sitting, 6 mo; walking, 12 mo; first word, 7 mo. Seizures: None. EEG: None. Brain MRI: None. Hypotonia: none. Motor coordination defects: none. Congenital anomalies: None. Dysmorphic features: Mild slanting of the palpebral fissures, broad nasal tip, smooth philtrum. Growth parameters: weight (%ile), 75; length (%ile), 50; FOC (%ile), 50. Ethnicity: Caucasian. Vision: Normal. Hearing: Normal.
 FS IQ 88, verbal 95, performance 84
 71788
 195270
  123483
 GRCh38
 Deletion
 No
  toma_13_ASD_discovery_cases-caseMT_76.3
 22 yrs.
 M
 PDD-NOS
 Diagnostic: meets research criteria for PDD-NOS (ADI-R +; ADOS +; clinical diagnosis (DSM IV-TR+)); calibrated Severity Score = 9; evidence of onset prior to 3 years of age; no language delay. Adaptive behavior: Daily Living Skills: alteration (2nd percentile); Communication: alteration (70th percentile); Social-Emotional: alteration (2nd percentile). Aberrant behavior: dysphoria and aggressiveness. Medical history: infectious and digestive problems. Family and developmental history: no family history of ASD; second of two affected siblings; paternal side: No significant psychiatric history; paternal side: depression, anxiety and learning problems (mother); grandfather with obsessive symptomatology and alcohol addiction; two aunts with obsessive symptomatology. Pregnancy and birth: vaginal delivery at 40 weeks; augmented labor; no anesthesia; no pregnancy or birth complications. Paternal/maternal age at time of conception: 38 yrs./36 yrs.
 Full Scale IQ: 71; Non-Verbal IQ: 81; Verbal IQ: 90
 1742730
 1849810
  107081
 GRCh38
 Duplication
 Yes
  toma_13_ASD_discovery_cases-caseMT_76.4
 29 yrs.
 M
 Asperger syndrome
 Diagnostic: meets research criteria for Asperger Syndrome: (ADI-R +; ADOS +; clinical diagnosis (DSM IV-TR+)); calibrated Severity Score = 9; evidence of onset prior to 3 years of age; no language delay. Adaptive behavior: Daily Living Skills: no alteration (63rd percentile); Communication: alteration (2nd percentile); Social-Emotional: alteration (1st percentile). Aberrant behavior: binge eating, suicidal behavior, apathy and anxiety. Medical history: asthma, epilepsy and sleeping problems . Family and developmental history: no family history of ASD; first of two affected siblings; paternal side: No significant psychiatric history; paternal side: depression, anxiety and learning problems (mother); grandfather with obsessive symptomatology and alcohol addiction; two aunts with obsessive symptomatology. Pregnancy and birth: vaginal delivery at 38 weeks; no anesthesia; no pregnancy complications; forceps delivery. Paternal/maternal age at time of conception: 31 yrs./29 yrs.
 Full Scale IQ: 80; Non-Verbal IQ: 85; Verbal IQ: 95
 1742730
 1849810
  107081
 GRCh38
 Duplication
 Yes
  vaags_11_ASD_discovery_cases-probandF2-003
 3 yrs. 5 mos.
 M
 Autism
 Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
 Leiter-R IQ: incomplete (test attempted but proband failed to complete)
 753141
 820070
  66930
 GRCh38
 Deletion
 No
  vaags_11_ASD_replication_cases_2-probandF4-003
 3 yrs. 6 mos.
 M
 Autism
 Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
 Leiter-R IQ: incomplete (test attempted but proband failed to complete)
 741254
 841877
  100624
 GRCh38
 Deletion
 No
  yingjun_17_ASD_discovery_cases-case7714
 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.
 
 113461
 2361858
  2248398
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case214
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 125316
 183286
  57971
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case215
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 1749100
 2197089
  447990
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  chen_17_ASD_discovery_controls1-control18
  N/A
  N/A
  Control
  Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
 
  1685479
  2197089
  511611
  GRCh38
  Deletion
 
  engchuan_15_ASD_discovery_controls-control110036023109_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  3774893
  3958993
  184101
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB178854_1007854183
  N/A
  N/A
  Control
  No previous psychiatric history
 
  3781067
  3933517
  152451
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB180587_1007874633
  N/A
  N/A
  Control
  No previous psychiatric history
 
  38141
  128944
  90804
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB268227_1007841416
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1730522
  1881619
  151098
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB326599_1007854356
  N/A
  N/A
  Control
  No previous psychiatric history
 
  12225
  205205
  192981
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB365205_1007853975
  N/A
  N/A
  Control
  No previous psychiatric history
 
  2029122
  2073679
  44558
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB458066_1007853853
  N/A
  N/A
  Control
  No previous psychiatric history
 
  3689249
  3944011
  254763
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB958009_1007875283
  N/A
  N/A
  Control
  No previous psychiatric history
 
  299506
  362454
  62949
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900242_900242
  N/A
  N/A
  Control
  No previous psychiatric history
 
  2029122
  2066051
  36930
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900269_900269
  N/A
  N/A
  Control
  No previous psychiatric history
 
  93465
  140521
  47057
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900512_900512
  N/A
  N/A
  Control
  No previous psychiatric history
 
  12225
  59265
  47041
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900585_900585
  N/A
  N/A
  Control
  No previous psychiatric history
 
  222296
  317004
  94709
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901134_901134
  N/A
  N/A
  Control
  No previous psychiatric history
 
  143082
  777949
  634868
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901140_901140
  N/A
  N/A
  Control
  No previous psychiatric history
 
  589738
  691486
  101749
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901142_901142
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1484450
  1587757
  103308
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901142_901142
  N/A
  N/A
  Control
  No previous psychiatric history
 
  155252
  233402
  78151
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902843_902843
  N/A
  N/A
  Control
  No previous psychiatric history
 
  474989
  685633
  210645
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_01
  NA
  NA
  Control
  NA
  NA
  664257
  795978
  131722
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_02
  NA
  NA
  Control
  NA
  NA
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_107
  NA
  NA
  Control
  NA
  NA
  692772
  834140
  141369
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_107
  NA
  NA
  Control
  NA
  NA
  945654
  1340386
  394733
  GRCh38
  Deletion
  No
  girirajan_11_ASD_discovery_controls-NIMH_111
  NA
  NA
  Control
  NA
  NA
  179965
  479867
  299903
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_116
  NA
  NA
  Control
  NA
  NA
  992227
  1291963
  299737
  GRCh38
  Deletion
  No
  girirajan_11_ASD_discovery_controls-NIMH_13
  NA
  NA
  Control
  NA
  NA
  661715
  761130
  99416
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_135
  NA
  NA
  Control
  NA
  NA
  730594
  821467
  90874
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_14
  NA
  NA
  Control
  NA
  NA
  664257
  795978
  131722
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_140
  NA
  NA
  Control
  NA
  NA
  661715
  795978
  134264
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_144
  NA
  NA
  Control
  NA
  NA
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_145
  NA
  NA
  Control
  NA
  NA
  664257
  795978
  131722
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_146
  NA
  NA
  Control
  NA
  NA
  664257
  795978
  131722
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_147
  NA
  NA
  Control
  NA
  NA
  664257
  795978
  131722
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_149
  NA
  NA
  Control
  NA
  NA
  661715
  795978
  134264
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_150
  NA
  NA
  Control
  NA
  NA
  661715
  795978
  134264
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_152
  NA
  NA
  Control
  NA
  NA
  661715
  795978
  134264
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_153
  NA
  NA
  Control
  NA
  NA
  666268
  851572
  185305
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_156
  NA
  NA
  Control
  NA
  NA
  664257
  795978
  131722
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_159
  NA
  NA
  Control
  NA
  NA
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_16
  NA
  NA
  Control
  NA
  NA
  666268
  761130
  94863
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_160
  NA
  NA
  Control
  NA
  NA
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_164
  NA
  NA
  Control
  NA
  NA
  664257
  795978
  131722
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_17
  NA
  NA
  Control
  NA
  NA
  692772
  834140
  141369
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_174
  NA
  NA
  Control
  NA
  NA
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_179
  NA
  NA
  Control
  NA
  NA
  728025
  834140
  106116
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_181
  NA
  NA
  Control
  NA
  NA
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_184
  NA
  NA
  Control
  NA
  NA
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_189
  NA
  NA
  Control
  NA
  NA
  664257
  821249
  156993
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_190
  NA
  NA
  Control
  NA
  NA
  664257
  816697
  152441
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_198
  NA
  NA
  Control
  NA
  NA
  728025
  834140
  106116
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_199
  NA
  NA
  Control
  NA
  NA
  664257
  795978
  131722
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_202
  NA
  NA
  Control
  NA
  NA
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_205
  NA
  NA
  Control
  NA
  NA
  664257
  795978
  131722
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_207
  NA
  NA
  Control
  NA
  NA
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_209
  NA
  NA
  Control
  NA
  NA
  664257
  795978
  131722
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_211
  NA
  NA
  Control
  NA
  NA
  692772
  834140
  141369
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_219
  NA
  NA
  Control
  NA
  NA
  692772
  834140
  141369
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_220
  NA
  NA
  Control
  NA
  NA
  664257
  795978
  131722
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_223
  NA
  NA
  Control
  NA
  NA
  692772
  834140
  141369
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_225
  NA
  NA
  Control
  NA
  NA
  728025
  834140
  106116
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_228
  NA
  NA
  Control
  NA
  NA
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_232
  NA
  NA
  Control
  NA
  NA
  692772
  834140
  141369
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_233
  NA
  NA
  Control
  NA
  NA
  677751
  834140
  156390
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_234
  NA
  NA
  Control
  NA
  NA
  677751
  834140
  156390
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_24
  NA
  NA
  Control
  NA
  NA
  666268
  761130
  94863
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_252
  NA
  NA
  Control
  NA
  NA
  677751
  795978
  118228
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_261
  NA
  NA
  Control
  NA
  NA
  661715
  795978
  134264
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_263
  NA
  NA
  Control
  NA
  NA
  664257
  816697
  152441
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_264
  NA
  NA
  Control
  NA
  NA
  664257
  795978
  131722
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_265
  NA
  NA
  Control
  NA
  NA
  692772
  834140
  141369
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_271
  NA
  NA
  Control
  NA
  NA
  677751
  795978
  118228
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_279
  NA
  NA
  Control
  NA
  NA
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_280
  NA
  NA
  Control
  NA
  NA
  677751
  795978
  118228
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_281
  NA
  NA
  Control
  NA
  NA
  664257
  795978
  131722
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_284
  NA
  NA
  Control
  NA
  NA
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_287
  NA
  NA
  Control
  NA
  NA
  692772
  866220
  173449
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_288
  NA
  NA
  Control
  NA
  NA
  692772
  878122
  185351
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_289
  NA
  NA
  Control
  NA
  NA
  661715
  795978
  134264
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_291
  NA
  NA
  Control
  NA
  NA
  664257
  761130
  96874
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_293
  NA
  NA
  Control
  NA
  NA
  664257
  795978
  131722
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_295
  NA
  NA
  Control
  NA
  NA
  661715
  795978
  134264
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_296
  NA
  NA
  Control
  NA
  NA
  664257
  761130
  96874
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_298
  NA
  NA
  Control
  NA
  NA
  664257
  795978
  131722
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_30
  NA
  NA
  Control
  NA
  NA
  666268
  761130
  94863
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_300
  NA
  NA
  Control
  NA
  NA
  758739
  878122
  119384
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_305
  NA
  NA
  Control
  NA
  NA
  664257
  761130
  96874
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_307
  NA
  NA
  Control
  NA
  NA
  666268
  761130
  94863
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_308
  NA
  NA
  Control
  NA
  NA
  666268
  761130
  94863
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_309
  NA
  NA
  Control
  NA
  NA
  677751
  795978
  118228
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_310
  NA
  NA
  Control
  NA
  NA
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_311
  NA
  NA
  Control
  NA
  NA
  664257
  795978
  131722
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_312
  NA
  NA
  Control
  NA
  NA
  664257
  795978
  131722
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_315
  NA
  NA
  Control
  NA
  NA
  677751
  795978
  118228
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_316
  NA
  NA
  Control
  NA
  NA
  664257
  834140
  169884
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_317
  NA
  NA
  Control
  NA
  NA
  661715
  795978
  134264
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_320
  NA
  NA
  Control
  NA
  NA
  664257
  795978
  131722
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_324
  NA
  NA
  Control
  NA
  NA
  428104
  546786
  118683
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_324
  NA
  NA
  Control
  NA
  NA
  661715
  795978
  134264
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_34
  NA
  NA
  Control
  NA
  NA
  666268
  834140
  167873
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_35
  NA
  NA
  Control
  NA
  NA
  677751
  795978
  118228
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_37
  NA
  NA
  Control
  NA
  NA
  677751
  821467
  143717
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_39
  NA
  NA
  Control
  NA
  NA
  692772
  821467
  128696
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_46
  NA
  NA
  Control
  NA
  NA
  677751
  795978
  118228
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_47
  NA
  NA
  Control
  NA
  NA
  677751
  795978
  118228
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_50
  NA
  NA
  Control
  NA
  NA
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_51
  NA
  NA
  Control
  NA
  NA
  664257
  795978
  131722
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_59
  NA
  NA
  Control
  NA
  NA
  661715
  795978
  134264
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_62
  NA
  NA
  Control
  NA
  NA
  677751
  795978
  118228
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_64
  NA
  NA
  Control
  NA
  NA
  661715
  761130
  99416
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_65
  NA
  NA
  Control
  NA
  NA
  664257
  816697
  152441
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_66
  NA
  NA
  Control
  NA
  NA
  661715
  795978
  134264
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_74
  NA
  NA
  Control
  NA
  NA
  666268
  761130
  94863
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_80
  NA
  NA
  Control
  NA
  NA
  677751
  795978
  118228
  GRCh38
  Duplication
  Yes
  girirajan_11_ASD_discovery_controls-NIMH_83
  NA
  NA
  Control
  NA
  NA
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_88
  NA
  NA
  Control
  NA
  NA
  664257
  816697
  152441
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-10203100189
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-10208109404
  N/A
  N/A
  Control
  Ethnicity: Asian
  N/A
  677751
  795978
  118228
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-105102427
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-107107567
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  728025
  834140
  106116
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-10809111031
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-11010113049
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  728025
  834140
  106116
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-11210113056
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  661715
  834140
  172426
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-11210113056
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  456788
  513827
  57040
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-11510113081
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  761130
  96874
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-11806105859
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-12110113024
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  659122
  795978
  136857
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-13703100328
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-13908109580
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  728025
  834140
  106116
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-14710112915
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-15110112933
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  692772
  834140
  141369
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-15607108080
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-16503100409
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-17203100441
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-17203100441
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  1462736
  1517344
  54609
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-20209111301
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-20308109922
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-20809111324
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  664257
  834140
  169884
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-22709111397
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  692772
  834140
  141369
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-23004100677
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  666268
  816697
  150430
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-23107108218
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  677751
  795978
  118228
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-24809111471
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-25204100801
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-25205103118
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-2608108900
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  666268
  834140
  167873
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-26109111483
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  677751
  795978
  118228
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-26707108441
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-28707108689
  N/A
  N/A
  Control
  Ethnicity: Asian
  N/A
  677751
  834140
  156390
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-29509111585
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  692772
  834140
  141369
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-29606106442
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  692772
  816697
  123926
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-32508110343
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  661715
  795978
  134264
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-32907108625
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  692772
  834140
  141369
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-3306105584
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-34107108649
  N/A
  N/A
  Control
  Ethnicity: Asian
  N/A
  692772
  821467
  128696
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-34108110389
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-34306106585
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  661715
  795978
  134264
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-34506106593
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  664257
  761130
  96874
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-3506105586
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-35208110427
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  664257
  851572
  187316
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-35507108745
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  692772
  834140
  141369
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-35706106616
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  761130
  96874
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-36206106646
  N/A
  N/A
  Control
  Ethnicity: African American
  N/A
  664257
  834140
  169884
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-37205104108
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  666268
  834140
  167873
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-37706106741
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  659067
  761130
  102064
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-37904101339
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-37904101339
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  464305
  516374
  52070
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-38308110558
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  661715
  795978
  134264
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-40804101794
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  661715
  865672
  203958
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-40804101794
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  428104
  513827
  85724
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-41205103606
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  677751
  795978
  118228
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-41406106851
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  1174445
  1227366
  52922
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-42005103669
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-43206106894
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  1174445
  1227366
  52922
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-4506105599
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-4506105599
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  1052065
  1291963
  239899
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-45304101644
  N/A
  N/A
  Control
  Ethnicity: African American
  N/A
  677751
  870492
  192742
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-46006106980
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  677751
  795978
  118228
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-46406106996
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  692772
  816697
  123926
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-46506107005
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-46806107025
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-48206107078
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-48905104181
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-4906105609
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-49206107109
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  692772
  834140
  141369
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-50406107159
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  664257
  761130
  96874
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-52705104329
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  661715
  795978
  134264
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-53306107454
  N/A
  N/A
  Control
  Ethnicity: African American
  N/A
  692772
  834140
  141369
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-54104102012
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  661715
  865672
  203958
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-54206107480
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  664257
  761130
  96874
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-54305104360
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  661715
  761130
  99416
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-55009112409
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  677751
  795978
  118228
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-55209112484
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-57305104494
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  661715
  795978
  134264
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-57705104509
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  456788
  548200
  91413
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-57705104509
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  664257
  761130
  96874
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-60105104570
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  661715
  795978
  134264
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-60105104570
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  453812
  542358
  88547
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-6106105636
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-63605104696
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-6608109280
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-66404102339
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  728025
  834140
  106116
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-66705104892
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-67005104902
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-6808109293
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  664257
  834140
  169884
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-70005105416
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  761130
  96874
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-70305105431
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  664257
  761130
  96874
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-70505105438
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  692772
  834140
  141369
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-71704102974
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-7406105704
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  728025
  821467
  93443
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-7907107797
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  661715
  834140
  172426
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-8206105715
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  761130
  96874
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-8808109366
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  661715
  795978
  134264
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-8906105747
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  664257
  795978
  131722
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-9905103520
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  666268
  795978
  129711
  GRCh38
  Duplication
  No
  krumm_13_ASD_discovery_controls-control12373.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12373. SRS score of 52.
 
  618989
  678060
  59072
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11010.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11164.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11445.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11581.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11715.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11768.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11869.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11990.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12106.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12115.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12228.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12261.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12274.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12368.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12373.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  618989
  666123
  47135
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12440.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12905.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12923.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  376609
  644425
  267817
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13252.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13272.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13748.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13882.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13927.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13962.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14213.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  151512
  205958
  54447
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14249.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14456.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  814728
  821930
  7203
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11274.s1
  NA
  M
  Control
  NA
  NA
  678904
  880766
  201863
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C28137
 
 
  Control
 
 
  2087491
  2128366
  40876
  Unknown
  Deletion
 
  poultney_13_ASD_discovery_controls-control04C27095A
  N/A
  F
  Control
  NIMH Control (NIMH ID 71084)
 
  821859
  871566
  49708
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C31991A
  N/A
  F
  Control
  NIMH Control (NIMH ID 67659)
 
  850379
  876214
  25836
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C32515B
  N/A
  M
  Control
  NIMH Control (NIMH ID 79540)
 
  140306
  195353
  55048
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C40185A
  N/A
  M
  Control
  NIMH Control (NIMH ID 37981)
 
  850379
  876214
  25836
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C43065
  N/A
  M
  Control
  NIMH Control (NIMH ID 53990)
 
  618988
  678062
  59075
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11049.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  12225
  204837
  192613
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11114.s1
  11.6
  F
  Control (matched sibling)
  NA
  NA
  2085840
  2088338
  2499
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11724.s1
  14.5
  F
  Control (matched sibling)
  NA
  NA
  2041551
  2066051
  24501
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11835.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  2041551
  2066051
  24501
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11989.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  2274995
  2276196
  1202
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12369.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  2032546
  2058069
  25524
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12619.s1
  4.7
  M
  Control (matched sibling)
  NA
  NA
  2174199
  2191323
  17125
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12787.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  2047349
  2066051
  18703
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12916.s1
  12.3
  M
  Control (matched sibling)
  NA
  NA
  3651062
  3657673
  6612
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12923.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  360428
  667231
  306804
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12939.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  563215
  606269
  43055
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 akkus_24_ASD/DD/ID_discovery_cases-case76A
 
 
 Unknown
 
 
 CEP72,AHRR,EXOC3-AS1,CCDC127,PLEKHG4B,LRRC14B,SLC9A3-AS1,MIR4456,CEP72-DT,PDCD6-DT,SDHA,SLC9A3,PDCD6-AHRR,PDCD6,TPPP,EXOC3
 
 akkus_24_ASD/DD/ID_discovery_cases-case9A
 
 
 Unknown
 
 
 NKD2,SLC6A19,SLC6A18,MIR4635,TERT,SLC12A7
 
 battaglia_13_DD/ID/ASD_discovery_cases-case61
 FISH or qPCR
 
 De novo
 Unknown
 Unknown
 LRRC14B,HRAT5,PP7080,MIR4456,BRD9P2,SPCS2P3,CCDC127,SDHA,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,ZDHHC11,PLEKHG4B,AHRR,SLC9A3,CEP72
 
 brandler_18_ASD_replication_cases-case1-0874-003
 No validation step reported
 
 Paternal
 
 
 TERT
 
 chen_17_ASD_discovery_cases-caseU-2058
 RT-qPCR
 
 De novo
 
 
 MIR4277,MRPL36,LINC02116,CTD-2194D22.4,NDUFS6,IRX4
 
 chilian_13_DD/ID_discovery_cases-case1
 
 
 Unknown
 Possibly simplex (no info on 1st child)
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
 cucinotta_23_ASD_discovery_cases-case325
 
 
 Maternal
 
 
 AHRR,EXOC3-AS1,SLC9A3-AS1,MIR4456,SLC9A3,PDCD6-AHRR,PDCD6,EXOC3
 
 davis_09_ASD_discovery_cases-AU018304
 
 
 Unknown
 Unknown
 Unknown
 CEP72, TPPP
 
 du_21_ASD/DD/ID_discovery_cases-case319
 
 
 Unknown
 
 
 CEP72,AHRR,ZDHHC11,BRD9,LPCAT1,CLPTM1L,NKD2,EXOC3-AS1,CCDC127,PLEKHG4B,SLC6A19,SLC6A18,LRRC14B,SDHAP3,ZDHHC11B,SLC9A3-AS1,SPCS2P3,MIR4277,MIR4456,MIR4457,LINC01511,MIR4635,CEP72-DT,PDCD6-DT,MIR6075,SDHA,SLC9A3,TERT,SLC6A3,MTCO2P32,BRD9P2,PDCD6-AHRR,TRIP13,PDCD6,TPPP,EXOC3,SLC12A7
 
 engchuan_15_ASD_discovery_cases-case14042_730
 
 
 Unknown
 
 
 PP7080,MIR4456,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,AHRR,SLC9A3
 
 engchuan_15_ASD_discovery_cases-case14042_730
 
 
 Unknown
 
 
 MIR4277,MRPL36,LINC02116,NDUFS6
 
 engchuan_15_ASD_discovery_cases-case14042_730
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14218_3510
 
 
 Unknown
 
 
 CTD-2194D22.4,IRX4
 
 engchuan_15_ASD_discovery_cases-case14253_3760
 
 
 Unknown
 
 
 CTD-3080P12.3,MIR4457,MTCO2P32,SLC12A7,SLC6A19,SLC6A18,TERT,CLPTM1L,LINC01511,SLC6A3
 
 engchuan_15_ASD_discovery_cases-case14403_5120
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4161_1
 
 
 Unknown
 
 
 PLEKHG4B
 
 engchuan_15_ASD_discovery_cases-case4257_1
 
 
 Unknown
 
 
 PLEKHG4B
 
 engchuan_15_ASD_discovery_cases-case4360_1
 
 
 Unknown
 
 
 TPPP,CEP72
 
 engchuan_15_ASD_discovery_cases-case4535_1
 
 
 Unknown
 
 
 PLEKHG4B
 
 engchuan_15_ASD_discovery_cases-case5222_3
 
 
 Unknown
 
 
 TPPP,CEP72
 
 engchuan_15_ASD_discovery_cases-case6228_4
 
 
 Unknown
 
 
 TPPP,CEP72
 
 engchuan_15_ASD_discovery_cases-case8643_201
 
 
 Unknown
 
 
 MTCO2P32,CLPTM1L,LINC01511,SLC6A3
 
 firouzabadi_16_ASD_discovery_cases-patient6
 
 
 Maternal
 Simplex
 Unknown
 BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
 girirajan_11_ASD_discovery_cases-Si105
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si107
 
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si108
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si109
 
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si110
 
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si111
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si113
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si114
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_11_ASD_discovery_cases-Si115
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si118
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9,CEP72
 
 girirajan_11_ASD_discovery_cases-Si119
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si12
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_11_ASD_discovery_cases-Si120
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si122
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_11_ASD_discovery_cases-Si123
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9,CEP72
 
 girirajan_11_ASD_discovery_cases-Si124
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si125
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si126
 
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si129
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si136
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
 girirajan_11_ASD_discovery_cases-Si138
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
 girirajan_11_ASD_discovery_cases-Si145
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9,CEP72
 
 girirajan_11_ASD_discovery_cases-Si146
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
 girirajan_11_ASD_discovery_cases-Si147
 
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si148
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si150
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si152
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si154
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si158
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si159
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9,CEP72
 
 girirajan_11_ASD_discovery_cases-Si16
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si161
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si163
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si165
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si166
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si167
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_11_ASD_discovery_cases-Si168
 
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si170
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si171
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si172
 
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si173
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si174
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_11_ASD_discovery_cases-Si175
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si176
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si177
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_11_ASD_discovery_cases-Si178
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si179
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_11_ASD_discovery_cases-Si18
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si180
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si184
 
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si186
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si187
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_11_ASD_discovery_cases-Si19
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9,CEP72
 
 girirajan_11_ASD_discovery_cases-Si191
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si196
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si2
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si20
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si203
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
 girirajan_11_ASD_discovery_cases-Si21
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si22
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9,CEP72
 
 girirajan_11_ASD_discovery_cases-Si228
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si23
 
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si230
 
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si232
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_11_ASD_discovery_cases-Si237
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si239
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si24
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si241
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si246
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si249
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si25
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9,CEP72
 
 girirajan_11_ASD_discovery_cases-Si252
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si253
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si254
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si255
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si26
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9,CEP72
 
 girirajan_11_ASD_discovery_cases-Si267
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
 girirajan_11_ASD_discovery_cases-Si27
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9,CEP72
 
 girirajan_11_ASD_discovery_cases-Si28
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si282
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si284
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si285
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si29
 
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si292
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
 girirajan_11_ASD_discovery_cases-Si293
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si295
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si296
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si297
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si298
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si3
 
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si30
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si300
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si304
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si306
 
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si31
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si313
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_11_ASD_discovery_cases-Si32
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si321
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si324
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
 girirajan_11_ASD_discovery_cases-Si33
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9,CEP72
 
 girirajan_11_ASD_discovery_cases-Si34
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si341
 
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si343
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si344
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si346
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si35
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si37
 
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si39
 
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si41
 
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si43
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si45
 
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si47
 
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si48
 
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si49
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si5
 
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si51
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si58
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9
 
 girirajan_11_ASD_discovery_cases-Si60
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si61
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si62
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si63
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si65
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si66
 
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si67
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si68
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si7
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si71
 
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si72
 
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_11_ASD_discovery_cases-Si73
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_11_ASD_discovery_cases-Si8
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si82
 
 
 Paternal
 Simplex
 
 PP7080,MIR4456,BRD9P2,SPCS2P3,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,ZDHHC11,BRD9,AHRR,SLC9A3,CEP72,TRIP13
 
 girirajan_11_ASD_discovery_cases-Si94
 
 
 Unknown
 Simplex
 
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_11_ASD_discovery_cases-Si97
 aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
 Unknown
 Simplex
 
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_11_ASD_discovery_cases-Si99
 
 
 Unknown
 Simplex
 
 TPPP,ZDHHC11B,CEP72
 
 girirajan_13a_ASD_discovery_cases-12376.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 PP7080,MIR4456,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,AHRR,SLC9A3,CEP72
 
 girirajan_13a_ASD_discovery_cases-12991.p1
 
 
 Unknown
 Simplex
 Unknown
 LSINCT5,IRX2,C5orf38
 
 girirajan_13a_ASD_discovery_cases-14098.p1
 
 
 Unknown
 Simplex
 Unknown
 SPCS2P3,MIR4635,ZDHHC11,BRD9,NKD2,SLC12A7,TRIP13
 
 girirajan_13a_DD_discovery_cases-DDcase107
 
 
 Unknown
 
 
 PP7080,MIR4456,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,AHRR,SLC9A3,CEP72
 
 girirajan_13a_DD_discovery_cases-DDcase108
 
 
 Unknown
 
 
 PP7080,MIR4456,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,AHRR,SLC9A3,CEP72
 
 girirajan_13a_DD_discovery_cases-DDcase109
 
 
 Unknown
 
 
 PP7080,MIR4456,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,AHRR,SLC9A3,CEP72
 
 girirajan_13a_DD_discovery_cases-DDcase110
 
 
 Unknown
 
 
 PP7080,MIR4456,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,AHRR,SLC9A3,CEP72
 
 girirajan_13a_DD_discovery_cases-DDcase111
 
 
 Unknown
 
 
 PP7080,MIR4456,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,AHRR,SLC9A3,CEP72
 
 girirajan_13b_ASD_discovery_cases-10007107879
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_13b_ASD_discovery_cases-10609111027
 
 
 Unknown
 Unknown
 Unknown
 PDCD6,AHRR
 
 girirajan_13b_ASD_discovery_cases-13906105868
 
 
 Unknown
 Unknown
 Unknown
 TPPP,ZDHHC11B,CEP72
 
 girirajan_13b_ASD_discovery_cases-16008109701
 
 
 Unknown
 Unknown
 Unknown
 TPPP,ZDHHC11B,CEP72
 
 girirajan_13b_ASD_discovery_cases-16709111253
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-16709111253
 
 
 Unknown
 Unknown
 Unknown
 PP7080,MIR4456,EXOC3,SLC9A3-AS1,SLC9A3
 
 girirajan_13b_ASD_discovery_cases-16909111203
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-1709110692
 
 
 Unknown
 Unknown
 Unknown
 
 
 girirajan_13b_ASD_discovery_cases-17609111227
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-19707108103
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-19804100154
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_13b_ASD_discovery_cases-20005103253
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_13b_ASD_discovery_cases-22505104145
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_13b_ASD_discovery_cases-24609111458
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_13b_ASD_discovery_cases-25209111475
 
 
 Unknown
 Unknown
 Unknown
 PDCD6,AHRR
 
 girirajan_13b_ASD_discovery_cases-25209111475
 
 
 Unknown
 Unknown
 Unknown
 PP7080,MIR4456,EXOC3,SLC9A3-AS1,SLC9A3
 
 girirajan_13b_ASD_discovery_cases-25209111475
 
 
 Unknown
 Unknown
 Unknown
 TPPP,ZDHHC11B,CEP72
 
 girirajan_13b_ASD_discovery_cases-25504100812
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-25807108397
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-26107108401
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-28309111551
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9,CEP72
 
 girirajan_13b_ASD_discovery_cases-28504101060
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-29309111573
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-29909111597
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-29909111597
 
 
 Unknown
 Unknown
 Unknown
 CTD-3080P12.3,SLC6A19
 
 girirajan_13b_ASD_discovery_cases-29909111597
 
 
 Unknown
 Unknown
 Unknown
 MIR4635,SLC12A7
 
 girirajan_13b_ASD_discovery_cases-3309110754
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_13b_ASD_discovery_cases-34009111760
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-36904100666
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-36907108784
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-38108110540
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_13b_ASD_discovery_cases-40406106815
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-41005104435
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_13b_ASD_discovery_cases-41504101477
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_13b_ASD_discovery_cases-42506106873
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-45905104126
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-47404100574
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9
 
 girirajan_13b_ASD_discovery_cases-47604101025
 
 
 Unknown
 Unknown
 Unknown
 TPPP,ZDHHC11B,CEP72
 
 girirajan_13b_ASD_discovery_cases-48804101682
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_13b_ASD_discovery_cases-48904101700
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-49906107136
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-50104101765
 
 
 Unknown
 Unknown
 Unknown
 TPPP,ZDHHC11B,CEP72
 
 girirajan_13b_ASD_discovery_cases-50604101832
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-51206107184
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_13b_ASD_discovery_cases-54304102048
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_13b_ASD_discovery_cases-55104100200
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_13b_ASD_discovery_cases-5606105324
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-56104101183
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-57105104492
 
 
 Unknown
 Unknown
 Unknown
 MIR4635,CTD-3080P12.3,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT
 
 girirajan_13b_ASD_discovery_cases-57505104500
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-59704102165
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_13b_ASD_discovery_cases-709110652
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9,CEP72
 
 girirajan_13b_ASD_discovery_cases-709110652
 
 
 Unknown
 Unknown
 Unknown
 PP7080,MIR4456,EXOC3,SLC9A3-AS1,SLC9A3
 
 girirajan_13b_ASD_discovery_cases-7905103425
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_13b_ASD_discovery_cases-7908109348
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-8203100466
 
 
 Unknown
 Unknown
 Unknown
 CTD-3080P12.3,SLC6A19,SLC6A18
 
 girirajan_13b_ASD_discovery_cases-8505102895
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-8705102962
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_13b_ASD_discovery_cases-8905102822
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-909110667
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-9106105625
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-9305102846
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
 girirajan_13b_ASD_discovery_cases-9405102860
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-9605102926
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
 girirajan_13b_ASD_discovery_cases-9907107878
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 girirajan_13b_ASD_discovery_cases-9908109393
 
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
 iourov_12_ASD/ID/EP_discovery_cases-case42
 
 
 Unknown
 Unknown
 Unknown
 PP7080,MIR4456,BRD9P2,SPCS2P3,MIR4635,CTD-3080P12.3,MIR4457,MTCO2P32,MIR6075,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,ZDHHC11,BRD9,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT,CLPTM1L,LINC01511,LPCAT1,AHRR,SLC9A3,CEP72,TRIP13,SLC6A3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000357
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LRRC14B,HRAT5,PP7080,MIR4456,BRD9P2,SPCS2P3,MIR4635,CTD-3080P12.3,MIR4457,MTCO2P32,MIR6075,MIR4277,MRPL36,CCDC127,SDHA,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,ZDHHC11,BRD9,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT,CLPTM1L,LINC01511,LPCAT1,NDUFS6,PLEKHG4B,AHRR,SLC9A3,CEP72,TRIP13,SLC6A3,SDHAP3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000880
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LRRC14B,HRAT5,PP7080,MIR4456,BRD9P2,SPCS2P3,MIR4635,CTD-3080P12.3,MIR4457,MTCO2P32,MIR6075,MIR4277,MRPL36,LINC02116,CTD-2194D22.4,LSINCT5,IRX2,CCDC127,SDHA,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,ZDHHC11,BRD9,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT,CLPTM1L,LINC01511,LPCAT1,NDUFS6,IRX4,LINC01377,PLEKHG4B,AHRR,SLC9A3,CEP72,TRIP13,SLC6A3,SDHAP3,C5orf38
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000989
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001051
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LRRC14B,HRAT5,PP7080,MIR4456,BRD9P2,SPCS2P3,MIR4635,CTD-3080P12.3,MIR4457,MTCO2P32,MIR6075,MIR4277,MRPL36,LINC02116,CTD-2194D22.4,LSINCT5,IRX2,LINC01017,IRX1,CCDC127,SDHA,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,ZDHHC11,BRD9,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT,CLPTM1L,LINC01511,LPCAT1,NDUFS6,IRX4,LINC01377,LINC01019,LINC02162,PLEKHG4B,AHRR,SLC9A3,CEP72,TRIP13,SLC6A3,SDHAP3,C5orf38
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001052
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LRRC14B,HRAT5,PP7080,MIR4456,CCDC127,SDHA,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,PLEKHG4B,AHRR,SLC9A3,CEP72
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001715
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LRRC14B,HRAT5,PP7080,MIR4456,BRD9P2,SPCS2P3,MIR4635,CTD-3080P12.3,MIR4457,MTCO2P32,MIR6075,MIR4277,MRPL36,LINC02116,CTD-2194D22.4,LSINCT5,IRX2,LINC01017,CCDC127,SDHA,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,ZDHHC11,BRD9,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT,CLPTM1L,LINC01511,LPCAT1,NDUFS6,IRX4,LINC01377,LINC01019,LINC02162,PLEKHG4B,AHRR,SLC9A3,CEP72,TRIP13,SLC6A3,SDHAP3,C5orf38
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002330
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PP7080,MIR4456,BRD9P2,SPCS2P3,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,ZDHHC11,BRD9,AHRR,SLC9A3,CEP72,TRIP13
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002622
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 LRRC14B,HRAT5,PP7080,MIR4456,BRD9P2,SPCS2P3,MIR4635,CTD-3080P12.3,MIR4457,MTCO2P32,MIR6075,MIR4277,MRPL36,LINC02116,CTD-2194D22.4,LSINCT5,IRX2,CCDC127,SDHA,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,ZDHHC11,BRD9,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT,CLPTM1L,LINC01511,LPCAT1,NDUFS6,IRX4,PLEKHG4B,AHRR,SLC9A3,CEP72,TRIP13,SLC6A3,SDHAP3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002762
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LRRC14B,HRAT5,PP7080,MIR4456,BRD9P2,SPCS2P3,MIR4635,CTD-3080P12.3,MIR4457,MTCO2P32,MIR6075,MIR4277,MRPL36,LINC02116,CTD-2194D22.4,LSINCT5,IRX2,CCDC127,SDHA,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,ZDHHC11,BRD9,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT,CLPTM1L,LINC01511,LPCAT1,NDUFS6,IRX4,PLEKHG4B,AHRR,SLC9A3,CEP72,TRIP13,SLC6A3,SDHAP3,C5orf38
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004054
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 PLEKHG4B
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004084
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PLEKHG4B
 
 kanduri_15_ASD_discovery_cases-case1925
 
 
 Paternal
 Unknown
 Unknown
 Intergenic CNV: nearest genes, MIR4456(dist=31249),LOC100996325(dist=4047)
 
 krumm_13_ASD_discovery_cases-case12373.p1
 
 
 Maternal
 Simplex
 Not segregated
 BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
 krumm_13_ASD_discovery_cases-case13293.p1
 
 
 Paternal
 Simplex
 Segregated
 CEP72
 
 krumm_15_ASD_discovery_cases-case11064.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case11142.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case11164.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case11241.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case11339.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case11378.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case11391.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case11445.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case11485.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case11581.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case11583.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case11612.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case11617.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case11733.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case11869.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case11990.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case12031.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case12102.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case12106.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case12115.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case12223.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case12275.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case12341.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case12373.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 CEP72
 
 krumm_15_ASD_discovery_cases-case12517.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case12597.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case12610.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case12619.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 LRRC14B,HRAT5,CCDC127,SDHA,PDCD6,PLEKHG4B
 
 krumm_15_ASD_discovery_cases-case12842.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case12950.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case13000.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case13034.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case13067.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 CEP72
 
 krumm_15_ASD_discovery_cases-case13075.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case13123.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 MIR4635,CTD-3080P12.3,BRD9,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT,TRIP13
 
 krumm_15_ASD_discovery_cases-case13177.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case13359.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case13491.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case13527.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case13601.p1
 1M-Duov3
 
 De novo
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case13748.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case13757.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case13783.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case13801.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case13810.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case13825.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case13882.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case13918.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case14037.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case14098.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 MIR4635,BRD9,NKD2,SLC12A7,TRIP13
 
 krumm_15_ASD_discovery_cases-case14104.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SPCS2P3,ZDHHC11
 
 krumm_15_ASD_discovery_cases-case14213.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 LRRC14B,CCDC127,PLEKHG4B
 
 levy_11_ASD_discovery_cases-12499.p1
 
 
 Maternal
 Simplex
 Segregated
 MRPL36,LINC02116,NDUFS6,IRX4
 
 morrow_08_ASD_discovery_cases-case5901
 
 
 Maternal
 NA
 NA
 0 genes
 
 morrow_08_ASD_discovery_cases-case8601
 
 
 Maternal
 NA
 NA
 ZDHHC11
 
 mosrati_12_ASD/MR_discovery_cases-caseV6
 
 
 Unknown
 Multiplex
 Unknown
 PLEKHG4B,LRRC14B,CCDC127,SDHA,PDCD6,AHRR
 
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient4
 
 
 Maternal
 Multi-generational
 Unknown
 BRD9P2,ZDHHC11B,ZDHHC11
 
 pinto_10_ASD_discovery_cases-case5222_3
 Agilent1M
 
 paternal
 NA
 NA
 TPPP,CEP72
 
 pinto_10_ASD_discovery_cases-case5268_3
 Agilent1M
 
 paternal
 NA
 NA
 ZDHHC11
 
 pinto_10_ASD_discovery_cases-case5390_3
 Agilent1M
 
 maternal
 NA
 NA
 ZDHHC11,BRD9
 
 pinto_10_ASD_discovery_cases-case5394_3
 Agilent1M
 
 maternal
 NA
 NA
 ZDHHC11
 
 pinto_10_ASD_discovery_cases-case5407_3
 Agilent1M
 
 maternal
 NA
 NA
 ZDHHC11
 
 poultney_13_ASD_discovery_cases-case98HI0391A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZDHHC11,BRD9
 
 poultney_13_ASD_discovery_cases-case99HI1053A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 MIR4635,SLC12A7
 
 prasad_12_ASD_discovery_cases-case157610
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case60662-L
 
 
 Unknown
 Unknown
 Unknown
 SLC12A7,SLC6A18,SLC6A19,TERT
 
 prasad_12_ASD_discovery_cases-case74431
 
 
 Unknown
 Unknown
 Unknown
 CEP72
 
 prasad_12_ASD_discovery_cases-case78391
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 quintela_17_DD/ID_discovery_cases-caseID_44
 
 
 Unknown
 
 Unknown
 LINC01377
 
 reis_17_ASD/ID_discovery_cases-case1
 
 
 De novo
 Multiplex
 Not segregated
 BRD9P2,ZDHHC11B
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1342-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-417a1
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 PLEKHG4B
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-037
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 MRPL36,NDUFS6
 
 sanders_11_ASD_discovery_cases-11017.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11049.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LRRC14B,CCDC127,PLEKHG4B
 
 sanders_11_ASD_discovery_cases-11196.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11584.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11620.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 SLC9A3
 
 sanders_11_ASD_discovery_cases-11724.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11978.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12266.p1
 
 
 Paternal
 Simplex (trio)
 NA
 LRRC14B,CCDC127,SDHA,PLEKHG4B
 
 sanders_11_ASD_discovery_cases-12369.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12499.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 MRPL36,LINC02116,NDUFS6
 
 sanders_11_ASD_discovery_cases-12548.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12619.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12624.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12787.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13162.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sandoval_talamantes_23_ASD_discovery_cases-caseAUT52
 
 
 Unknown
 
 
 IRX4,CEP72,AHRR,ZDHHC11,IRX1,BRD9,MRPL36,LPCAT1,CLPTM1L,NKD2,EXOC3-AS1,CCDC127,C5orf38,IRX2,LINC01019,SLC6A19,SLC6A18,SDHAP3,ZDHHC11B,NDUFS6,SLC9A3-AS1,SPCS2P3,MIR4277,MIR4456,MIR4457,LINC01511,MIR4635,CEP72-DT,LSINCT5,LINC02116,IRX4-AS1,LINC01377,PDCD6-DT,LINC01017,MIR6075,LINC02162,SDHA,SLC9A3,TERT,SLC6A3,MTCO2P32,BRD9P2,PDCD6-AHRR,TRIP13,PDCD6,TPPP,EXOC3,SLC12A7
 
 sansovic_17_DD/ID/ASD_discovery_cases-case65
 
 
 Maternal
 
 
 LRRC14B,HRAT5,PP7080,MIR4456,BRD9P2,SPCS2P3,MIR4635,CTD-3080P12.3,MIR4457,MTCO2P32,MIR6075,MIR4277,MRPL36,LINC02116,CTD-2194D22.4,LSINCT5,IRX2,LINC01017,IRX1,LINC02063,CCDC127,SDHA,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,ZDHHC11,BRD9,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT,CLPTM1L,LINC01511,LPCAT1,NDUFS6,IRX4,LINC01377,LINC01019,LINC02162,PLEKHG4B,AHRR,SLC9A3,CEP72,TRIP13,SLC6A3,SDHAP3,C5orf38
 
 sansovic_17_DD/ID/ASD_discovery_cases-case91
 
 
 Paternal
 
 
 LRRC14B,HRAT5,PP7080,MIR4456,BRD9P2,SPCS2P3,MIR4635,CTD-3080P12.3,MIR4457,MTCO2P32,MIR6075,MIR4277,MRPL36,LINC02116,CTD-2194D22.4,CCDC127,SDHA,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,ZDHHC11,BRD9,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT,CLPTM1L,LINC01511,LPCAT1,NDUFS6,IRX4,PLEKHG4B,AHRR,SLC9A3,CEP72,TRIP13,SLC6A3,SDHAP3
 
 sato_12_ASD_discovery_cases_1-family1caseIII-5
 
 Possibly maternal
 Unknown
 Simplex for ASD; multiplex for anxiety disorder
 Unknown
 BRD9P2,ZDHHC11B
 
 schaaf_12_ASD/DD/ID_discovery_cases-caseI4
 
 
 Unknown
 Unknown
 Unknown
 LRRC14B,PLEKHG4B
 
 toma_13_ASD_discovery_cases-caseMT_76.3
 qPCR
 
 Inherited
 Multiplex
 Segregated
 MRPL36,NDUFS6
 
 toma_13_ASD_discovery_cases-caseMT_76.4
 qPCR
 
 Inherited
 Multiplex
 Segregated
 MRPL36,NDUFS6
 
 vaags_11_ASD_discovery_cases-probandF2-003
 
 
 Unknown
 Multiplex
 Unknown
 BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
 vaags_11_ASD_replication_cases_2-probandF4-003
 
 
 Unknown
 Simplex
 Unknown
 BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
 yingjun_17_ASD_discovery_cases-case7714
 N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
 
 Unknown
 Unknown
 Unknown
 LRRC14B,HRAT5,PP7080,MIR4456,BRD9P2,SPCS2P3,MIR4635,CTD-3080P12.3,MIR4457,MTCO2P32,MIR6075,MIR4277,MRPL36,LINC02116,CTD-2194D22.4,CCDC127,SDHA,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,ZDHHC11,BRD9,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT,CLPTM1L,LINC01511,LPCAT1,NDUFS6,IRX4,PLEKHG4B,AHRR,SLC9A3,CEP72,TRIP13,SLC6A3,SDHAP3
 
 yin_16_ASD_discovery_cases-case214
 
 
 Unknown
 Unknown
 Unknown
 PLEKHG4B
 
 yin_16_ASD_discovery_cases-case215
 
 
 Unknown
 Unknown
 Unknown
 MRPL36,LINC02116,CTD-2194D22.4,NDUFS6,IRX4
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chen_17_ASD_discovery_controls1-control18
 
 
  Unknown
 
 
  MIR4277,MRPL36,LINC02116,CTD-2194D22.4,NDUFS6,IRX4
 
engchuan_15_ASD_discovery_controls-control110036023109_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB178854_1007854183
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB180587_1007874633
 
 
  Unknown
 
 
  PLEKHG4B
 
engchuan_15_ASD_discovery_controls-controlB268227_1007841416
 
 
  Unknown
 
 
  MRPL36,LINC02116,NDUFS6,IRX4
 
engchuan_15_ASD_discovery_controls-controlB326599_1007854356
 
 
  Unknown
 
 
  LRRC14B,CCDC127,PLEKHG4B
 
engchuan_15_ASD_discovery_controls-controlB365205_1007853975
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB458066_1007853853
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB958009_1007875283
 
 
  Unknown
 
 
  PDCD6,AHRR
 
engchuan_15_ASD_discovery_controls-controlHABC_900242_900242
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900269_900269
 
 
  Unknown
 
 
  PLEKHG4B
 
engchuan_15_ASD_discovery_controls-controlHABC_900512_900512
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900585_900585
 
 
  Unknown
 
 
  HRAT5,SDHA,PDCD6,AHRR
 
engchuan_15_ASD_discovery_controls-controlHABC_901134_901134
 
 
  Unknown
 
 
  LRRC14B,HRAT5,PP7080,MIR4456,BRD9P2,CCDC127,SDHA,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,PLEKHG4B,AHRR,SLC9A3,CEP72
 
engchuan_15_ASD_discovery_controls-controlHABC_901140_901140
 
 
  Unknown
 
 
  TPPP,CEP72
 
engchuan_15_ASD_discovery_controls-controlHABC_901142_901142
 
 
  Unknown
 
 
  MIR6075,LPCAT1,SDHAP3
 
engchuan_15_ASD_discovery_controls-controlHABC_901142_901142
 
 
  Unknown
 
 
  LRRC14B,CCDC127,SDHA,PLEKHG4B
 
engchuan_15_ASD_discovery_controls-controlHABC_902843_902843
 
 
  Unknown
 
 
  MIR4456,SLC9A3-AS1,TPPP,SLC9A3,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_01
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_02
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_107
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_107
 
 
  Unknown
 
 
  MIR4635,CTD-3080P12.3,MIR4457,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT,CLPTM1L
 
girirajan_11_ASD_discovery_controls-NIMH_111
 
 
  Unknown
 
 
  LRRC14B,HRAT5,PP7080,CCDC127,SDHA,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,PLEKHG4B,AHRR,SLC9A3
 
girirajan_11_ASD_discovery_controls-NIMH_116
 
 
  Unknown
 
 
  MIR4635,CTD-3080P12.3,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT
 
girirajan_11_ASD_discovery_controls-NIMH_13
 
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_135
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_14
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_140
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_144
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_145
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_146
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_147
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_149
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_150
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_152
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_153
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_156
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_159
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_16
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_160
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_164
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_17
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_174
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_179
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_181
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_184
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_189
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_190
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_198
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_199
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_202
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_205
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_207
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_209
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_211
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_219
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_220
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_223
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_225
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_228
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_232
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_233
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_234
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_24
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_252
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_261
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_263
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_264
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_265
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_271
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_279
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_280
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_281
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_284
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_287
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9
 
girirajan_11_ASD_discovery_controls-NIMH_288
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9
 
girirajan_11_ASD_discovery_controls-NIMH_289
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_291
 
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_293
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_295
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_296
 
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_298
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_30
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_300
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11,BRD9
 
girirajan_11_ASD_discovery_controls-NIMH_305
 
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_307
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_308
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_309
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_310
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_311
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_312
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_315
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_316
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_317
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_320
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_324
 
 
  Unknown
 
 
  PP7080,MIR4456,EXOC3-AS1,EXOC3,SLC9A3-AS1,AHRR,SLC9A3
 
girirajan_11_ASD_discovery_controls-NIMH_324
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_34
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_35
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_37
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_39
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_46
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_47
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_50
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_51
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_59
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_62
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_64
 
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_65
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_66
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_74
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_80
  aCGH (Nimblegen 3x720K or Agilent 2x400K)
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_11_ASD_discovery_controls-NIMH_83
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_11_ASD_discovery_controls-NIMH_88
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-10203100189
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-10208109404
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-105102427
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-107107567
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-10809111031
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-11010113049
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-11210113056
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-11210113056
 
 
  Unknown
 
 
  PP7080,EXOC3,SLC9A3-AS1,SLC9A3
 
girirajan_13b_ASD_discovery_controls-11510113081
 
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_13b_ASD_discovery_controls-11806105859
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-12110113024
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-13703100328
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-13908109580
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-14710112915
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-15110112933
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-15607108080
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-16503100409
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-17203100441
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-17203100441
 
 
  Unknown
 
 
  MIR6075,LPCAT1
 
girirajan_13b_ASD_discovery_controls-20209111301
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-20308109922
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-20809111324
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-22709111397
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-23004100677
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-23107108218
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-24809111471
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-25204100801
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-25205103118
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-2608108900
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-26109111483
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-26707108441
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-28707108689
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-29509111585
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-29606106442
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-32508110343
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-32907108625
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-3306105584
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-34107108649
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-34108110389
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-34306106585
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-34506106593
 
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_13b_ASD_discovery_controls-3506105586
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-35208110427
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9,CEP72
 
girirajan_13b_ASD_discovery_controls-35507108745
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-35706106616
 
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_13b_ASD_discovery_controls-36206106646
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-37205104108
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-37706106741
 
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_13b_ASD_discovery_controls-37904101339
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-37904101339
 
 
  Unknown
 
 
  PP7080,EXOC3,SLC9A3-AS1,SLC9A3
 
girirajan_13b_ASD_discovery_controls-38308110558
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-40804101794
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9,CEP72
 
girirajan_13b_ASD_discovery_controls-40804101794
 
 
  Unknown
 
 
  PP7080,EXOC3-AS1,EXOC3,SLC9A3-AS1,AHRR,SLC9A3
 
girirajan_13b_ASD_discovery_controls-41205103606
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-41406106851
 
 
  Unknown
 
 
  CTD-3080P12.3,SLC6A19,SLC6A18
 
girirajan_13b_ASD_discovery_controls-42005103669
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-43206106894
 
 
  Unknown
 
 
  CTD-3080P12.3,SLC6A19,SLC6A18
 
girirajan_13b_ASD_discovery_controls-4506105599
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-4506105599
 
 
  Unknown
 
 
  MIR4635,CTD-3080P12.3,SLC12A7,SLC6A19,SLC6A18,TERT
 
girirajan_13b_ASD_discovery_controls-45304101644
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9
 
girirajan_13b_ASD_discovery_controls-46006106980
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-46406106996
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-46506107005
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-46806107025
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-48206107078
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-48905104181
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-4906105609
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-49206107109
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-50406107159
 
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_13b_ASD_discovery_controls-52705104329
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-53306107454
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-54104102012
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9,CEP72
 
girirajan_13b_ASD_discovery_controls-54206107480
 
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_13b_ASD_discovery_controls-54305104360
 
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_13b_ASD_discovery_controls-55009112409
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-55209112484
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-57305104494
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-57705104509
 
 
  Unknown
 
 
  PP7080,MIR4456,EXOC3,SLC9A3-AS1,SLC9A3
 
girirajan_13b_ASD_discovery_controls-57705104509
 
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_13b_ASD_discovery_controls-60105104570
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-60105104570
 
 
  Unknown
 
 
  PP7080,MIR4456,EXOC3,SLC9A3-AS1,SLC9A3
 
girirajan_13b_ASD_discovery_controls-6106105636
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-63605104696
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-6608109280
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-66404102339
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-66705104892
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-67005104902
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-6808109293
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-70005105416
 
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_13b_ASD_discovery_controls-70305105431
 
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_13b_ASD_discovery_controls-70505105438
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-71704102974
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-7406105704
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,ZDHHC11B,ZDHHC11
 
girirajan_13b_ASD_discovery_controls-7907107797
 
 
  Unknown
 
 
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-8206105715
 
 
  Unknown
 
 
  TPPP,ZDHHC11B,CEP72
 
girirajan_13b_ASD_discovery_controls-8808109366
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-8906105747
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
girirajan_13b_ASD_discovery_controls-9905103520
 
 
  Unknown
 
 
  BRD9P2,TPPP,ZDHHC11B,ZDHHC11,CEP72
 
krumm_13_ASD_discovery_controls-control12373.s1
 
 
  Maternal
  Simplex
 
  TPPP,CEP72
 
krumm_15_ASD_discovery_controls-control11010.s1
  Illumina 1M
 
  Paternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control11164.s1
  Illumina 1M
 
  Paternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control11445.s1
  Illumina 1M
 
  Paternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control11581.s1
  Illumina 1M
 
  Maternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control11715.s1
  Illumina 1MDuo
 
  De novo
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control11768.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control11869.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control11990.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control12106.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control12115.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control12228.s1
  Illumina 1MDuo
 
  De novo
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control12261.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control12274.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control12368.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control12373.s1
  Illumina 1MDuo
 
  Maternal
 
 
  TPPP,CEP72
 
krumm_15_ASD_discovery_controls-control12440.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control12905.s1
  1M-Duov3
 
  Maternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control12923.s1
  Illumina 1MDuo
 
  Paternal
 
 
  PP7080,MIR4456,EXOC3-AS1,EXOC3,SLC9A3-AS1,AHRR,SLC9A3,CEP72
 
krumm_15_ASD_discovery_controls-control13252.s1
  1M-Duov3
 
  Paternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control13272.s1
  1M-Duov3
 
  Maternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control13748.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control13882.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control13927.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control13962.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control14213.s1
  Omni2.5-4v1
 
  Maternal
 
 
  LRRC14B,CCDC127,PLEKHG4B
 
krumm_15_ASD_discovery_controls-control14249.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SPCS2P3,ZDHHC11
 
krumm_15_ASD_discovery_controls-control14456.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SPCS2P3,ZDHHC11
 
levy_11_ASD_discovery_controls-11274.s1
 
 
  Paternal
  Simplex
  NA
  BRD9P2,SPCS2P3,TPPP,ZDHHC11B,ZDHHC11,BRD9
 
nord_11_ASD_discovery_controls-04C28137
 
 
 
 
 
  0 genes
 
poultney_13_ASD_discovery_controls-control04C27095A
 
 
  Unknown
 
 
  ZDHHC11,BRD9
 
poultney_13_ASD_discovery_controls-control04C31991A
 
 
  Unknown
 
 
  ZDHHC11,BRD9
 
poultney_13_ASD_discovery_controls-control04C32515B
 
 
  Unknown
 
 
  LRRC14B,PLEKHG4B
 
poultney_13_ASD_discovery_controls-control05C40185A
 
 
  Unknown
 
 
  ZDHHC11,BRD9
 
poultney_13_ASD_discovery_controls-control05C43065
 
 
  Unknown
 
 
  TPPP,CEP72
 
sanders_11_ASD_discovery_controls-11049.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LRRC14B,CCDC127,PLEKHG4B
 
sanders_11_ASD_discovery_controls-11114.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11724.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11835.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11989.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12369.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12619.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12787.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12916.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12923.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PP7080,MIR4456,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,AHRR,SLC9A3,CEP72
 
sanders_11_ASD_discovery_controls-12939.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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