10q26.3CNV Type: Deletion-Duplication
Largest CNV size: 4100000 bp
Statistics Box:
Number of Reports: 43
Number of Reports: 43
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
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
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Deletion-Duplication
Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications.
Duplication
Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.
Deletion
Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Duplication
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural di...
Deletion
Clinical genetic testing for patients with autism spectrum disorders.
Deletion
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
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
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome.
Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Identification of candidate intergenic risk loci in autism spectrum disorder.
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
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion-Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
De novo 11q deletion including SHANK2 in a patient with global developmental delay.
Duplication
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
Duplication
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
136299
1
0
1
bitar_19_ASD_discovery_cases
ASD cases selected through specialized institutions and NGOs specializing in mental disorders throughout Lebanon
19
Cases diagnosed with ASD using DSM-IV criteria and CARS
N/A
84.21% Male
126000
0
1
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
2123
1
0
1
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
150486
0
9
9
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
123495
0
4
4
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
364014
0
1
1
doornbos_09_15q11.2_discovery_cases
Patients in two genetic centres (University Medical Centre Groningen & Leiden University Medical Centre, Netherlands)
1576
Patients originally referred for mental retardation and/or multiple congenital abnormalities; all patients with 15q11.2 microdeletion were clinically re-evaluated.
1300000
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
596343
4
13
17
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
5565
1
0
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
60590
1
1
2
ghasemi_firouzabadi_16_ASD_discovery_cases
Sporadic Iranian ASD cases with no family history of ASD
50
Cases met DSM-5 criteria for ASD as diagnosed by pediatric neurologists specializing in autism; case also had intellectual disability with one or more additional clinical features
N/A
N/A
237000
0
1
1
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
912000
0
1
1
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
1010008
0
1
1
ignatius_21_DD_discovery_cases
Unrelated individuals with de novo copy number variation affecting the EBF3 gene (from an initial cohort of 11 individuals from six families with EBF3 variants)
2
Both cases presented with developmental delay
NA
50.00% Male
888272
1
1
2
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
170484
0
1
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
3915212
15
21
36
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
30753
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
59182
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
756000
4
89
93
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
500000
0
1
1
levchenko_22_DD/ID_discovery_cases
Individuals with non-specific intellectual developmental disorder from the Research Centre for Medical Genetics consulted from 2017 to 2020.
198
Cases presented with non-specific intellectual developmental delay (DD/ID).
Range, 6 mos.-65 yrs.
63.63% Male
1699089
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
158633
0
1
1
lintas_17_ASD_discovery_cases
ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
41
Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
N/A
87.80% Male
123493
2
1
3
li_18_ASD_discovery_cases
Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research
13
Diagnosis of ASD made according to DSM-IV
Mean age, 4.56 0.97 years
92.31% Male
133187
0
1
1
lopes_17_ASD/DD/ID_discovery_cases
Patient ascertained within a large study of neurodevelopmental disorders in Portugal that presented with a de novo 10q26.3 deletion encompassing the EBF3 gene
1
Case was scored for severe autism spectrum disorder (ADI-R and ADOS) and presented with severe intellectual disability (global development quotient of 27) at 7 years of age
11 years
Female
600000
1
0
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
3800000
1
0
1
marcou_17_DD/ID_discovery_cases
Third child born to parents with unremarkable family history presenting with a de novo 11q13.2-q13.4 deletion that included the SHANK2 gene
1
Case presented with global developmental delay, intellectual disability, microcephaly, and dysmorphic features
12 yrs.
Female
125088
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
320000
0
1
1
morris_12_ID_discovery_cases
Only child of healthy nonconsanguineous parents whose mother exhibits milder symptoms of BDMR (dysmorphism, short stature, obesity, no obvious intellectual disability).
1
Brachydactyly mental retardation syndrome (BDMR).
15 yrs.
Male
3320000
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)
61000
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
178000
1
0
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
72934
1
0
1
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
934585
0
1
1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
150484
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
258060
1
5
6
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)
108369
0
4
4
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
613313
9
9
18
shen_10b_ASD_discovery_cases
Father and son from a three-generation Chinese family with ASD and language delay.
2
Diagnosis of ASD based upon DSM-IV criteria.
Range, 12-41 yrs.
100% Male
134483
0
2
2
shen_10_ASD_discovery_cases
Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
848
ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
4100000
1
0
1
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
120000
0
2
2
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
477511
1
1
2
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
482868
0
1
1
wenger_16_ASD_discovery_cases
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
62
ASD
N/A
N/A
37040
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
1317400
5
8
13
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
606416
0
1
1
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
59182
0
3
3
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
378526
1
60
61
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
158633
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
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)
99349
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
676194
3
7
10
sherman_21_ASD_discovery_controls
Unaffected siblings of ASD probands from the Simons Simplex Collection (n=2,424) and the SPARK cohort (n=3,076) screened for mosaic CNVs (mCNVs)
5500
Control (unaffected siblings of ASD probands)
Range, 3-18 yrs.
NA
2556445
1
0
1
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
120000
0
1
1
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
482868
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
bitar_19_ASD_discovery_cases
Lebanon
aCGH
Agilent SurePrint G3 2x400K
ADM-2
Agilent Cytogenomics v.3.0.6.6, Agilent Feature Extraction
qPCR
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
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
doornbos_09_15q11.2_discovery_cases
Dutch
aCGH, array SNP, MLPA
105K oligo array, Affymetrix 262K Nsp1
Feature Extraction V.9., CGH analytics V.3.4.27, CNAG version 2.0
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
ghasemi_firouzabadi_16_ASD_discovery_cases
Iranian
MLPA
MLPA P036, P070, P343, and P396 kits
aCGH
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
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
ignatius_21_DD_discovery_cases
NA
aCGH
Agilent 180K
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)
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levchenko_22_DD/ID_discovery_cases
Russia
Array SNP
Affymetrix CytoScan HD, Affymetrix CytoScan XON
NA
NA
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lintas_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome CGH SurePrint G3 4x180K
ADM-2
Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Validation by visual inspection, RT-PCR, or PCR
li_18_ASD_discovery_cases
Chinese
Low-coverage WGS
Illumina HiSeq 2000 or 2500 analyzers
PSCC
None
lopes_17_ASD/DD/ID_discovery_cases
Portuguese
aCGH
Agilent 180K
FASST2 Segmentation
Nexus Copy Number 6.0
qPCR
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
marcou_17_DD/ID_discovery_cases
N/A
Array SNP
Affymetrix Cytoscan HD
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
morris_12_ID_discovery_cases
Caucasian
aCGH
NimbleGen 135K Whole-Genome oligo array
Roche NimbleGen software
None
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
FISH
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
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
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
shen_10b_ASD_discovery_cases
Chinese
aCGH
Agilent 244K
DNA Analytics
shen_10_ASD_discovery_cases
aCGH, array SNP
Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
BRLMM, CNAT4, Partek Genomic Suite
CGH Analytics, DNA Analytics software
None
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
wenger_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina HumanHap 550 or Illumina Human610-Quad v1.0
PennCNV
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
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
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sherman_21_ASD_discovery_controls
NA
Solid phase hybridization
Illumina 1Mv1, Illumina 1Mv3, Illumina Omni2.5, Illumina Infinium Global Screening Array-24 v.1.0
MoChA
None
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
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
akter_23_ASD/ADHD/DD/ID_discovery_cases-case186
6.08 yrs.
M
Developmental delay and intellectual disability
Developmental delay, speech delay, growth retardation, intellectual disability, lack of fine tuning, slight obesity, reduced movement during pregnancy and after birth. Growth parameters: height 1.03 m, weight 21 kg, head circumference 55 cm. Family history: born to non-consanguineous parents; maternal cousin with delayed speech.
Intellectual disability
133426867
133563165
136299
GRCh38
Deletion
No
bitar_19_ASD_discovery_cases-case51
N/A
M
ASD
Case diagnosed with ASD using DSM-IV criteria and CARS. Behavioral/psychiatric evaluation: hyperactivity, anxiety, echolalia. Additional medical history: deafness. Family history: born to non-consanguineous parents; family history not available.
133438823
133565257
126435
GRCh38
Duplication
Yes
celestino-soper_11_ASD_discovery_cases-11455
NA
M
ASD
NA
NA
132812760
132814883
2124
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case18
NA
M
ASD and intellectual disability
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
Intellectual disability.
133440534
133564028
123495
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case26
NA
M
ASD and intellectual disability
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
Intellectual disability.
133554161
133620674
66514
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case31
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
133440534
133564028
123495
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case42
NA
M
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
133440534
133591019
150486
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case57
NA
F
ASD, intellectual disability, and epilepsy
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2. Case also presented with phenylketonuria and epilepsy.
Intellectual disability.
133440534
133564028
123495
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case67
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
133440534
133591019
150486
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case82
NA
M
ASD and intellectual disability
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
Intellectual disability.
133538867
133620674
81808
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case84
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
133440534
133591019
150486
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case92
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
133440534
133564028
123495
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case145
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
133440534
133564028
123495
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case32
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
133440534
133564028
123495
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case456
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
133440534
133558988
118455
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case5
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
133440534
133564028
123495
GRCh38
Duplication
No
davis_09_ASD_discovery_cases-AU038703
NA
NA
Non-syndromic ASD
Diagnosis: broad spectrum autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
134957552
135321566
364014
Unknown
Duplication
No
doornbos_09_15q11.2_discovery_cases-case5
5 yrs.
M
ADHD
Hypotonia & feeding problems as an infant. Delayed motor & speech development. Behavioral difficulties with attention deficit. Convlusions. Normal growth parameters, some dysmorphic features (plagiocephaly, broad forehead, hypertelorism). Genital abnormalities, recurrent infections, 13 pairs of ribs.
IQ of 70-92 (WISC-III)
130711746
132036506
1324761
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1050_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
132825949
133084008
258060
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14070_1230
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
133537633
133632964
95332
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14080_1360
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
131673923
131800443
126521
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14108_1940
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
133538509
133632964
94456
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14186_3050
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
131521931
132029558
507628
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14219_3520
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
133537633
133621484
83852
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14288_4090
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
133537633
133621189
83557
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2165_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
133575972
133632964
56993
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2297_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
133543180
133632964
89785
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3017_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
133361821
133400975
39155
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5004_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
132927639
133025716
98078
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5270_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
133575972
133632964
56993
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5410_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
131605170
131844944
239775
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5430_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
133360698
133400975
40278
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6317_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
133012613
133608956
596344
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8658_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
133588696
133632964
44269
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case9892_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
133537060
133620799
83740
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000003
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S6
N/A
129843133
129848698
5566
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case532-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
131759852
131820442
60591
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case562-3
N/A
F
ASD
ASD; no other clinical information provided
N/A
133563571
133586746
23176
GRCh38
Deletion
No
ghasemi_firouzabadi_16_ASD_discovery_cases-p27
17 yrs.
M
ASD
Seizures, microcephaly, gastrointestinal problems, immune deficiency
Intellectual disability
N/A
N/A
237000
Unknown
Duplication
Yes
girirajan_13a_ASD_discovery_cases-12118.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
131747674
132676506
928833
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
132386193
133396201
1010009
GRCh38
Duplication
No
ignatius_21_DD_discovery_cases-caseFam5-10
NA
F
Developmental delay
Hypotonia, motor delay, delayed ability to walk (18 months), ataxia, tremor, dysplastic upper part of the cerebellar vermis, behavioral and/or emotional difficulties, pes planus, muscle weakness.
129743784
130308967
565184
GRCh38
Deletion
No
ignatius_21_DD_discovery_cases-caseFam6-11
NA
M
Developmental delay
Mosaic duplication/triplication; hypotonia, motor delay, delayed ability to walk (24 months), ataxia, tremor, transient tone asymmetry, delayed speech and language development/language impairment, infantile-onset strabismus (alternating exotropia), pontine and cerebellar hypoplasia, dysplastic foliation of the cerebellar hemispheres, pes planus, hypertelorism, small nose, long philtrum, open mouth apperance, everted lower lip, small nails.
129445424
130333695
888272
GRCh38
Duplication
Yes
iourov_12_ASD/ID/EP_discovery_cases-case46
2 yrs.
F
Intellectual disability
Speech delay, microcephaly, autistic features, syndactyly. Karyotype: 1qh-.
Intellectual disability, cognitive delay
133256510
133426994
170485
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000028
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133440535
133564028
123494
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000093
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133440535
133564028
123494
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000129
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133538868
133620674
81807
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000130
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133440535
133564028
123494
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000265
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133440535
133564028
123494
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000452
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133538868
133620674
81807
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000509
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133440535
133564028
123494
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000607
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133440535
133564028
123494
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000809
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133440535
133564028
123494
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000928
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133390058
133564028
173971
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000961
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133503306
133591019
87714
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000968
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
131457361
133620674
2163314
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000993
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
129324053
129974086
650034
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001023
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133440535
133564028
123494
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001043
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133440535
133558988
118454
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001051
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
131063816
131761750
697935
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001071
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133538868
133620674
81807
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001112
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133001134
133620674
619541
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001115
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133440535
133564028
123494
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001122
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133440535
133564028
123494
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001124
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133440535
133564028
123494
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001135
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133440535
133558988
118454
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001146
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133440535
133564028
123494
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001200
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133440535
133564028
123494
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001214
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133440535
133558988
118454
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001235
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133538868
133620674
81807
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001237
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133440535
133564028
123494
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001657
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
129904929
130552922
647994
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002010
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
131914873
133613938
1699066
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002662
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
131457361
131971639
514279
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004005
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
132475849
133620674
1144826
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004460
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
129673966
133613938
3939973
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004752
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
129758596
133620674
3862079
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004785
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133398406
133421339
22934
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004785
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
132445383
133398465
953083
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004905
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
129763050
131379342
1616293
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case1845
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.
135346696
135377448
30753
Unknown
Duplication
No
krumm_13_ASD_discovery_cases-case11561.p1
N/A
M
ASD
ASD proband from SSC quad family 11561. SRS score of 71.
Full-scale IQ (FSIQ) score of 109.
132920618
132979800
59183
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13162.p1
N/A
M
ASD
ASD proband from SSC quad family 13162. SRS score of 90.
Full-scale IQ (FSIQ) score of 74.
133362867
133366095
3229
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11066.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133560153
32759
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11075.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11085.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133528480
133560153
31674
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11148.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11181.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11234.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133326877
133328017
1141
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11247.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133560153
28570
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11331.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133531584
133626742
95159
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11376.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133420025
133560153
140129
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11397.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11409.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11413.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11436.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11445.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11464.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133531584
133560153
28570
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11491.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11497.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133527395
133557918
30524
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11498.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133531584
133560153
28570
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11505.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133565529
38135
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11546.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133560153
32759
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11561.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
132920618
132979800
59183
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11575.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11578.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
132920618
132979800
59183
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11625.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11627.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133532123
133565529
33407
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11665.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133626742
95159
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11707.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133532123
133560153
28031
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11773.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133560153
28570
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11892.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133528480
133565529
37050
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11928.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133326877
133366993
40117
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12028.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133326877
133328017
1141
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12115.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133560153
32759
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12118.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
131934455
132690455
756001
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12192.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133325826
133328015
2190
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12281.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133420025
133565529
145505
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12316.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133626742
95159
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12399.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133560153
28570
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12417.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133379998
133381659
1662
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12426.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12429.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133527395
133560153
32759
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12467.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133626742
99348
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12469.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133326877
133328017
1141
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12504.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12517.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133528480
133565529
37050
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12526.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12742.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12786.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12787.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133560153
32759
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12900.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133527395
133560153
32759
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12922.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12924.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
132930071
132941060
10990
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12997.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13010.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13027.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13042.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13071.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13072.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13199.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133528480
133565529
37050
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13305.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133127232
133168312
41081
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13317.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13394.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13405.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13501.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133531584
133560153
28570
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13552.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13579.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13587.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133560153
32759
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13690.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133527395
133560153
32759
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13737.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13792.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13835.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133560153
28570
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13839.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13847.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133537062
133565529
28468
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13874.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13933.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133537062
133626742
89681
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13962.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13983.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133531584
133560153
28570
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13997.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133528480
133565529
37050
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14016.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14023.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14026.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133528480
133560153
31674
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14036.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133537062
133626742
89681
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14050.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133537062
133560153
23092
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14059.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133527395
133565529
38135
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14082.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14090.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14134.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133537062
133560153
23092
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14135.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14172.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133565545
38151
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14235.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14279.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14374.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133528480
133565529
37050
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14406.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14491.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133531584
133565529
33946
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU3729301
N/A
F
ASD
131447737
131944496
496760
GRCh38
Duplication
No
levchenko_22_DD/ID_discovery_cases-caseD856
NA
F
Developmental delay/intellectual disability
Case presented with non-specific intellectual developmental disorder; no additional clinical information was provided.
131914551
133613639
1699089
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11231.p1
NA
M
ASD
NA
NA
133419685
133578317
158633
GRCh38
Duplication
No
lintas_17_ASD_discovery_cases-case2.1
N/A
N/A
Autism
No additional clinical information available
133440535
133564028
123494
GRCh38
Deletion
Yes
lintas_17_ASD_discovery_cases-case2.2
N/A
N/A
Asperger syndrome
No additional clinical information available
133440535
133564028
123494
GRCh38
Deletion
Yes
lintas_17_ASD_discovery_cases-case9.2
N/A
N/A
PDD-NOS
No additional clinical information available
133440535
133564028
123494
GRCh38
Duplication
Yes
li_18_ASD_discovery_cases-case6001
N/A
M
ASD
Diagnosis of ASD made according to DSM-IV
133424611
133557798
133188
GRCh38
Duplication
No
lopes_17_ASD/DD/ID_discovery_cases-case1
11 yrs.
F
ASD, developmental delay and intellectual disability
Case was scored for severe autism spectrum disorder (ADI-R and ADOS) at age of 7 years. Birth/neonatal history: born after a biamniotic bichorionic twin pregnancy by vaginal delivery at 35 weeks gestation; birth weight of 1830 g (3rd %ile), length of 42.5 cm (10th %ile), and OFC of 30.6 cm (10th %ile) with Apgar scores of 8 at 1st minute and 9 at 5th minute; neonatal period was complicated with sepsis and diagnosis of hereditary spherocytosis (inherited from her mother). Developmental milestones: global developmental delay (head control at 12 months, sitting at 18 months, indepedent walking at 30 months, no words spoken at 3 years). Lanaguge and communication evaluation: very poor language (two word sentences spoken after 8 years). Motor and musculoskeletal evaluation: muscle hypotonia, hypotonic face; pes planus. Behavioral/psychiatric evaluation: behavioral problems; stereotypic movements (rotating movements, chewing on clothes, head retropulsion); agitation; aggressive behavior (auto and hetero); medicated with antipsychotic drugs. Epilepsy/seizures: epilepsy suspected at 5 months due to episodes of suspended activity. EEG: normal. Brain imaging: no abnormalities noted on brain MRI at age of 6 years. Visual evaluation: strabismus and hypermetropia (required eyeglasses). Auditory evaluation: conductive hearing loss that required surgical intervention and a hearing aid. Additional medical history: pyelonephritis at 19 months (no abnormalities on renal ultrasound); gastroesophageal reflux; recurrent otitis media; reduced sensitivity to pain. Dysmorphic features: triangular face, small and low-set ears with prominent anti-helix, arched eyebrows, anteverted nares, bulbous nasal tip, small mouth, downturned corners of the mouth, pointed chin, short neck, prominent finger fetal pads; spaced upper central incisors. Growth parameters: mild short stature (89 cm, around -2 SD) at age of 3 years 5 months. Family history: born to non-consanguineous parents with no family history of neurodevelopmental disorders; healthy twin sister.
Severe intellectual disability (global development quotient of 27 at 7 years of age)
N/A
N/A
600000
GRCh37
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case54
2 yrs.
F
Motor delay
Birth history: born at 38 weeks gestation, no reported pregnancy anomalies. Developmental milestones: motor delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Additional medical history: kidney malformations. Dysmorphic features: upslanting palpebral fissures. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
Not reported
129763050
133591019
3827970
GRCh38
Deletion
No
marcou_17_DD/ID_discovery_cases-case1
12 yrs.
F
Global developmental delay/intellectual disability
Birth/neonatal history: born to a 36-year-old, gravida three, para three mother via natural conception; pregnancy not complicated by maternal illness or exposure to known teratogens, although the mother did take birth control pills during the first trimester and an antidepressant medication throughout gestation; birth at 36-1/2 weeks gestation via spontaneous vaginal delivery; birth weight of 2814 g (5th %ile), length of 45.08 cm (5th %ile), and head circumference of 32 cm (25th %ile); postnatal complications included need for oxygen and resuscitation for first 5 minutes of life; no additional postnatal complications observed prior to release from hospital; normal newborn screening; weak cry and weak suck as an infant, resulting in feeding difficulties and failure to thrive (weight <5th %ile); microcephaly (head circumference fell from 25th %ile to <5th %ile), hypotonia, and global developmental delay noted at this time. Developmental milestones: global developmental delay; rolling from front to back at 7 months, unassisted sitting between 9-11 months, crawling at 1 year, began pulling to stand at 14 months, independent walking at 22 months, climbing stairs between 4-5 years; did not use words until 3-4 years, did not speak in complete sentences until 8 years; no developmental regression. Lanaguge and communication evaluation: severe language delay, receives speech therapy twice a week. Motor and musculoskeletal evaluation: hypotonia; hypermobility in the small joints of the hand, mild pectus excavatum, evidence of scoliosis, arachnodactyly, long and thin feet, long and slender figners, clinodactyly of both fifth fingers, mild pes planus, piezogenic apules. EEG: normal. Brain imaging: normal brain MRI. Dysmorphic features: microcephaly, mild dolichocephaly, mild malar hypoplasia, mild retrognathia, fine hair, posterior hair whorl, prominent forehead, bilateral epicanthal folds, long palpebral fissures, deep-set eyes, low-set ears, petite ears, long ears with over-folding of the superior helix and with no tags or pits, broad nasal tip, depressed nasal bridge, small mouth, slight downturned corners of the mouth, widely spaced teeth. Growth parameters: height of 148.3 cm (19th %ile), weight of 36.1 kg (15th %ile), and head circumference of 50 cm (<3rd %ile) at 12 years. Family history: third child of parents; family history on both the maternal and paternal side is unremarkable with no documentation of any congenital anomalies or developmental delay; 48-year-old mother, 51-year-old father, and 23-year-old sister are healthy, 28-year-old brother was treated for testicular cancer at 21 years of age and a recurrence at 26 years of age.
Moderate-severe intellectual disability; case currently in 6th grade but performs work at 1st grade level.
133438674
133563761
125088
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-NA0138-000
NA
M
ASD
NA
NA
131602674
131941505
338832
GRCh38
Duplication
Yes
morris_12_ID_discovery_cases-case1
15 yrs.
M
Intellectual disability
Case diagnosed with brachydactyly mental retardation syndrome (BDMR). Birth/neonatal history: born at 38 weeks gestation by C-section due to abnormal fetal heart rate; Apgar scores of 7 (at 1 min) and 10 (at 5 min); birth weight and birth lenght at 25th-50th %ile, birth OFC at >97th %ile; dysmorphic features and hypertonia of all four limbs observed at 4 months. Brain imaging: cranial MRI at 21 months detected abnormal gyration of frontal lobes. Dysmorphic features: significant facial dysmorphism (webbed neck, round face, prominent forehead, highly arched eyebrows, sparse hair, low-set ears, downslanted palpebral fissures, depressed nasal bridge, thin upper lip vermillion, downturned mouth, high palate, midface retrusion), type E brachydactyly of 4th fingers, cutaneous syndactyly of 2nd and 3rd toes, inverted widely-spaced nipples. Growth parameters: short stature (height of 143.3 cm; -3 SD) and obesity (weight of 57.9 kg; +0.2 SD, BMI 28.19); BMI began to increase dramatically at 9 years and continue to rise until time of exam. Family history: only child of healthy, non-consanguineous parents; mother presented with similar dysmorphic syndrome, short staure, and obesity as proband, but no obvious intellectual disability, and with reduced HDAC4 expression (67% compared to controls); family history showed four cases of intellectual disability on mother's side (maternal aunt and three maternal cousins). Karyotype: maternally-inherited translocation between chr2 and chr10 [46,XY,der(2)t(2;10)(q37;q26)mat.ish].
Intellectual disability. Schooled at specialized institute for speech therapy and specialized care for psychomotricity and physiotherapy.
130242835
133589746
3346912
GRCh38
Duplication
No
morrow_08_ASD_discovery_cases-case2701
NA
ASD
NA
NA
135262000
135323000
61000
Unknown
Duplication
No
nava_13_ASD_discovery_cases-Fam1137Proband10782
N/A
M
ASD
Additional clinical profile info N/A
No ID
133438843
133616539
177697
GRCh38
Deletion
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC66054
N/A
F
MCA
Database: Signature. Indication for study: Multiple Congenital Anomalies, Congenital Reduction Deformities of Brain, Abnormal Karyotype
133366802
133439736
72935
GRCh38
Deletion
Yes
o'roak_12_ASD_discovery_cases-case12118.p1
NA
F
ASD/Autism
Case also identified with de novo COL25A1 frameshift mutation. No additional clinical info available.
High IQ. Non verbal IQ, 74
131744502
132697919
953418
GRCh38
Duplication
Yes
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient4
N/A
M
ASD and intellectual disability
Case met criteria for ASD diagnosis, exceeding ADOS and ADI thresholds in all areas. Developmental milestones: motor delay; language delay. Behavioral/psychiatric evaluation: depressed mood. Brain imaging: cerebral venous malformation detected on brain MRI. Family history: brother of maternal grandfather affected by intellectual disability; maternal grandmother affected by thyroid cancer.
Moderate cognitive impairment (TIQ score of 41)
133440535
133591019
150485
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case1050_3
NA
F
Autism
Verbal
No MR
132825949
133084008
258060
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5004_3
NA
M
Autism
Language delay, no epilepsy, no dysmorphic features
Below average nonverbal IQ (<1%ile)
132927639
133025716
98078
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5017_3
NA
M
Autism
Below average language (1%ile), no epilepsy, no dysmorphic features
MR (unable to complete IQ measure)
135134088
135230489
59332
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case5270_3
NA
M
ASD
NA
NA
133575972
133632964
56993
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5410_3
NA
M
ASD
NA
NA
131605170
131844944
239775
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5430_4
NA
M
ASD
NA
NA
133360698
133400975
40278
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case98HI0240A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU008904; NDAR ID NDAR_INVHG335TK5)
133527394
133626742
99349
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0603A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU014005; NDAR ID N/A)
133527394
133625604
98211
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0694B
N/A
F
ASD
ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
133527394
133625604
98211
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1157A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU013303; NDAR ID N/A)
132833356
132941724
108369
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
135320785
135372744
51959
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11379.p1
5.8
F
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 65; verbal IQ, 78
132878606
132978377
99772
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11491.p1
7.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
133254753
133272876
18124
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11543.p1
16.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ, 31
133261417
133286842
25426
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11561.p1
5.9
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 103; verbal IQ, 114
132880028
132978377
98350
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11578.p1
5.1
M
ASD
NA
Full-scale IQ, 120; non-verbal IQ, 120; verbal IQ, 115
132878606
132978377
99772
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11916.p1
4.8
F
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
133751237
133785429
34193
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12032.p1
10.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
133261417
133286842
25426
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12099.p1
8
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 55; verbal IQ, 63
133261417
133286842
25426
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12118.p1
12.6
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 74; verbal IQ, 102
131916245
132529558
613314
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12118.p1
12.6
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 74; verbal IQ, 102
131743060
131806866
63807
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12130.p1
8.4
F
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 55; verbal IQ, 62
131421926
131563969
142044
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12130.p1
8.4
F
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 55; verbal IQ, 62
131569460
131940830
371371
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12149.p1
5.3
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 103
129726753
129742347
15595
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12158.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100
133261417
133288831
27415
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12944.p1
7.9
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
133263019
133286842
23824
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
133326131
133355253
29123
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13327.p1
12.6
M
Aspergers
NA
Full-scale IQ, 103; non-verbal IQ, 95; verbal IQ, 118
133254753
133286842
32090
GRCh38
Deletion
No
shen_10b_ASD_discovery_cases-caseII:5
41 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: born at 40 weeks gestation, normal delivery. Developmental milestones: significant learning disability during childhood, speech delay. Language and communication evaluation: non-communicative. Motor and musculoskeletal evaluation: normal gait. Behavioral/psychiatric evaluation: repetitive motor mannerisms; social difficulty. History of alcohol abuse. Other medical concerns and comorbidities: elevated serum lipid and uric acid levels. Dysmorphic features: flat face, down-slanting eyes, broad nasal bridge, large submaxilla, thick upper lip, low-set ears, terminal broadening of fingers. Growth parameters: height, 160 cm; weight, 67 kg; BMI, 26.17; OFC, NA.
IQ not tested; significant childhood learning disability
135093039
135227522
134483
Unknown
Duplication
No
shen_10b_ASD_discovery_cases-caseIII:1
12 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
Mental retardation. WISC IQ score of 46.
135093039
135227522
134483
Unknown
Duplication
No
shen_10_ASD_discovery_cases-ASD-09-050
NA
M
PDD-NOS
NA
NA
129611746
133787422
4175677
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseBAK41
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
133438842
133559097
120256
GRCh38
Duplication
No
soueid_16_ASD_discovery_cases-caseCLIN24
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
133439393
133559097
119705
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family24_Twin_2
N/A
N/A
ASD/NDD
Case is from a dizygotic twin pair from the Discordant ASD/Discordant NDD diagnostic group
130326259
130803769
477511
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family36_Twin_1
N/A
N/A
ASD/NDD
Case is from a monozygotic twin pair from the Concordant ASD/Concordant NDD diagnostic group
133263172
133302889
39718
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case8-14186-3050
N/A
M
ASD
N/A
N/A
131521931
132029558
507628
GRCh38
Duplication
No
wenger_16_ASD_discovery_cases-case43
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
133328068
133365107
37040
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
engchuan_15_ASD_discovery_controls-controlB100121_1007854727
N/A
N/A
Control
No previous psychiatric history
133575972
133785429
209458
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB333151_1007853867
N/A
N/A
Control
No previous psychiatric history
132391850
133785429
1393580
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB346627_1007872552
N/A
N/A
Control
No previous psychiatric history
132823842
133350846
527005
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB356202_1007844561
N/A
N/A
Control
No previous psychiatric history
133575972
133785429
209458
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB438466_1007853689
N/A
N/A
Control
No previous psychiatric history
132880028
132987574
107547
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB555308_1007853571
N/A
N/A
Control
No previous psychiatric history
133326131
133365107
38977
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB885552_1007853677
N/A
N/A
Control
No previous psychiatric history
128878860
128917125
38266
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900116_900116
N/A
N/A
Control
No previous psychiatric history
131605170
131844944
239775
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900334_900334
N/A
N/A
Control
No previous psychiatric history
130358873
130502619
143747
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900370_900370
N/A
N/A
Control
No previous psychiatric history
132880028
132978377
98350
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900389_900389
N/A
N/A
Control
No previous psychiatric history
132880028
132978377
98350
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901047_901047
N/A
N/A
Control
No previous psychiatric history
133572278
133634467
62190
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902559_902559
N/A
N/A
Control
No previous psychiatric history
133539096
133621484
82389
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-11210113056
N/A
N/A
Control
Ethnicity: Caucasian
N/A
132722316
133328732
606417
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control11561.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11561. SRS score of 42.
132920618
132979800
59183
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13162.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13162. SRS score of 36.
133355369
133366095
10727
GRCh38
Duplication
No (False Positive)
krumm_13_ASD_discovery_controls-control14110.s1
N/A
F
Control
Unaffected sibling from SSC quad family 14110. SRS score of 39.
133218830
133219090
261
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11037.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11051.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133528480
133560153
31674
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11085.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133528480
133565529
37050
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11247.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133560153
28570
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11413.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11436.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133528480
133565529
37050
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11491.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11543.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133560153
28570
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11561.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
132920618
132979800
59183
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11568.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11578.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
132920618
132979800
59183
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11676.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133528480
133560153
31674
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11773.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11835.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133528480
133560153
31674
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11892.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133528480
133560153
31674
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12083.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133560153
28570
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12115.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133560153
28570
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12187.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133560153
28570
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12201.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133537062
133626742
89681
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12235.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133528480
133560153
31674
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12261.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133537750
133626742
88993
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12316.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133626742
95159
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12399.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12679.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133247486
133626012
378527
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12787.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133528480
133565529
37050
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12788.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12794.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133528480
133565529
37050
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12803.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133528480
133560153
31674
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12921.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133527395
133626742
99348
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12922.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12924.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
132929452
132941722
12271
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13034.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133528480
133565545
37066
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13047.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133532123
133626742
94620
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13071.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13072.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133560153
28570
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13166.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13307.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13394.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13509.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133326877
133328017
1141
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13579.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133560153
28570
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13587.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133560153
28570
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13714.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13792.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133528480
133565529
37050
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13802.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133528480
133565529
37050
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13804.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133560161
28578
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13835.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13839.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13850.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13856.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133528480
133626742
98263
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13864.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133528480
133565529
37050
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13874.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13882.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
132777670
133073497
295828
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13997.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14016.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14082.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133527395
133560153
32759
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14090.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14115.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133527395
133565529
38135
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14134.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133537062
133560153
23092
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14135.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133420025
133565529
145505
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14165.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133531584
133565529
33946
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14279.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
133527395
133565529
38135
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11231.s1
NA
F
Control
NA
NA
133419685
133578317
158633
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C43457A
N/A
F
Control
NIMH Control (NIMH ID 31106)
133527394
133626742
99349
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11379.s1
8.3
F
Control (matched sibling)
NA
NA
132880028
132978377
98350
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11561.s1
8.9
M
Control (matched sibling)
NA
NA
132880028
132978377
98350
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11578.s1
10.8
M
Control (matched sibling)
NA
NA
132880028
132978377
98350
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11928.s1
14.1
M
Control (matched sibling)
NA
NA
133341788
133364815
23028
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12099.s1
13.1
M
Control (matched sibling)
NA
NA
133263019
133286842
23824
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12118.s1
14.8
F
Control (matched sibling)
NA
NA
131797133
132492159
695027
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12130.s1
8.4
M
Control (matched sibling)
NA
NA
131421926
131936637
514712
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12331.s1
9.6
F
Control (matched sibling)
NA
NA
133318548
133328068
9521
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12582.s1
9.2
M
Control (matched sibling)
NA
NA
133249523
133286842
37320
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12605.s1
13.3
M
Control (matched sibling)
NA
NA
133283930
133286842
2913
GRCh38
Deletion
No
sherman_21_ASD_discovery_controls-SPARK_SP0133652
8 yrs.
F
Control
Unaffected sibling from the SPARK cohort. SCQ summary score: 0. Mosaic cell fraction: 0.2522. CNV occurs on the maternal haplotype.
131103067
133659511
2556445
GRCh38
Deletion
No
soueid_16_ASD_discovery_controls-control10
N/A
N/A
Control
N/A
N/A
120000
GRCh37
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akter_23_ASD/ADHD/DD/ID_discovery_cases-case186
Unknown
CYP2E1,OR6L2P,OR7M1P,SYCE1,SCART1
bitar_19_ASD_discovery_cases-case51
qPCR
Maternal
OR7M1P,SCART1,CYP2E1,SYCE1
celestino-soper_11_ASD_discovery_cases-11455
Unknown
Simplex
NA
CFAP46
chehbani_22_ASD_discovery_cases-case18
Unknown
Simplex
CYP2E1,OR7M1P,SYCE1,SCART1
chehbani_22_ASD_discovery_cases-case26
Unknown
Simplex
CYP2E1,SYCE1,OR6L1P
chehbani_22_ASD_discovery_cases-case31
Unknown
Simplex
CYP2E1,OR7M1P,SYCE1,SCART1
chehbani_22_ASD_discovery_cases-case42
Unknown
Simplex
CYP2E1,OR7M1P,SYCE1,OR6L1P,SCART1
chehbani_22_ASD_discovery_cases-case57
Unknown
Simplex
CYP2E1,OR7M1P,SYCE1,SCART1
chehbani_22_ASD_discovery_cases-case67
Unknown
Simplex
CYP2E1,OR7M1P,SYCE1,OR6L1P,SCART1
chehbani_22_ASD_discovery_cases-case82
Unknown
Simplex
CYP2E1,SYCE1,OR6L1P
chehbani_22_ASD_discovery_cases-case84
Unknown
Simplex
CYP2E1,OR7M1P,SYCE1,OR6L1P,SCART1
chehbani_22_ASD_discovery_cases-case92
Unknown
Simplex
CYP2E1,OR7M1P,SYCE1,SCART1
cucinotta_23_ASD_discovery_cases-case145
Maternal
CYP2E1,OR7M1P,SYCE1,SCART1
cucinotta_23_ASD_discovery_cases-case32
Paternal
CYP2E1,OR7M1P,SYCE1,SCART1
cucinotta_23_ASD_discovery_cases-case456
Unknown
CYP2E1,OR7M1P,SYCE1,SCART1
cucinotta_23_ASD_discovery_cases-case5
Paternal
CYP2E1,OR7M1P,SYCE1,SCART1
davis_09_ASD_discovery_cases-AU038703
Unknown
Unknown
Unknown
many
doornbos_09_15q11.2_discovery_cases-case5
Paternal
NA
NA
MIR378C,TCERG1L-AS1,LINC01164,PPP2R2D,BNIP3,TCERG1L
engchuan_15_ASD_discovery_cases-case1050_3
Unknown
LINC01167,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,CFAP46
engchuan_15_ASD_discovery_cases-case14070_1230
Unknown
OR6L1P,FRG2B,CYP2E1,SYCE1
engchuan_15_ASD_discovery_cases-case14080_1360
Unknown
LINC01164
engchuan_15_ASD_discovery_cases-case14108_1940
Unknown
OR6L1P,FRG2B,CYP2E1,SYCE1
engchuan_15_ASD_discovery_cases-case14186_3050
Unknown
LINC01164,PPP2R2D,BNIP3
engchuan_15_ASD_discovery_cases-case14219_3520
Unknown
OR6L1P,CYP2E1,SYCE1
engchuan_15_ASD_discovery_cases-case14288_4090
Unknown
OR6L1P,CYP2E1,SYCE1
engchuan_15_ASD_discovery_cases-case2165_1
Unknown
OR6L1P,FRG2B
engchuan_15_ASD_discovery_cases-case2297_1
Unknown
OR6L1P,FRG2B,CYP2E1,SYCE1
engchuan_15_ASD_discovery_cases-case3017_3
Unknown
MIR3944,ECHS1,PAOX,MTG1
engchuan_15_ASD_discovery_cases-case5004_3
Unknown
LINC01167,LINC01166,LINC01168,CFAP46
engchuan_15_ASD_discovery_cases-case5270_3
Unknown
OR6L1P,FRG2B
engchuan_15_ASD_discovery_cases-case5410_3
Unknown
LINC01164
engchuan_15_ASD_discovery_cases-case5430_4
Unknown
MIR3944,ECHS1,PAOX,MTG1
engchuan_15_ASD_discovery_cases-case6317_5
Unknown
RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,TUBGCP2,OR6L2P,SYCE1,KNDC1
engchuan_15_ASD_discovery_cases-case8658_201
Unknown
FRG2B
engchuan_15_ASD_discovery_cases-case9892_201
Unknown
OR6L1P,CYP2E1,SYCE1
fitzgerald_14_ASD/DD/ID_discovery_cases-case000003
De novo
Unknown
Unknown
MIR4297,EBF3
gazzellone_14_ASD_discovery_cases-case532-3
Unknown
Unknown
Unknown
LINC01164
gazzellone_14_ASD_discovery_cases-case562-3
Unknown
Unknown
Unknown
OR6L1P,SYCE1
ghasemi_firouzabadi_16_ASD_discovery_cases-p27
aCGH
De novo
Simplex
Likely segregated
SYC1,CYP2E1,OR7M1P,OR6L2P,SPRN,MTG1,OR6L1P,PAOX
girirajan_13a_ASD_discovery_cases-12118.p1
Unknown
Simplex
Unknown
LINC01165,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,STK32C,INPP5A,JAKMIP3
girirajan_13b_ASD_discovery_cases-25209111475
Unknown
Unknown
Unknown
LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,INPP5A,CFAP46,TUBGCP2,KNDC1
ignatius_21_DD_discovery_cases-caseFam5-10
De novo
CTAGE7P,EBF3,C10orf143,MGMT,MIR4297,PPIAP32,LINC02666,LINC02646,GLRX3
ignatius_21_DD_discovery_cases-caseFam6-11
FISH
De novo
CTAGE7P,EBF3,C10orf143,MGMT,MIR4297,PPIAP32,LINC02666,LINC02646,GLRX3
iourov_12_ASD/ID/EP_discovery_cases-case46
Unknown
Unknown
Unknown
ZNF511,BANF1P2,FUOM,MIR3944,SPRN,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,TUBGCP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000028
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7M1P,SCART1,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000093
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7M1P,SCART1,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000129
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR6L1P,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000130
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7M1P,SCART1,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000265
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7M1P,SCART1,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000452
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR6L1P,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000509
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
OR7M1P,SCART1,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000607
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7M1P,SCART1,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000809
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7M1P,SCART1,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000928
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPRN,OR7M1P,PAOX,MTG1,SCART1,CYP2E1,OR6L2P,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000961
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR6L1P,SCART1,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000968
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,JAKMIP3,KNDC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000993
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR4297,MGMT,EBF3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001023
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7M1P,SCART1,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001043
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7M1P,SCART1,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001051
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TCERG1L-AS1,TCERG1L
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001071
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR6L1P,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001112
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,TUBGCP2,OR6L2P,SYCE1,KNDC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001115
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7M1P,SCART1,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001122
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7M1P,SCART1,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001124
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7M1P,SCART1,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001135
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7M1P,SCART1,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001146
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7M1P,SCART1,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001200
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7M1P,SCART1,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001214
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7M1P,SCART1,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001235
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR6L1P,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001237
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR7M1P,SCART1,CYP2E1,SYCE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001657
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CTAGE7P,PPIAP32,EBF3,GLRX3,C10orf143
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002010
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,JAKMIP3,KNDC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002662
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01164,PPP2R2D,BNIP3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004005
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,KNDC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004460
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,C10orf143,JAKMIP3,KNDC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004752
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,C10orf143,JAKMIP3,KNDC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004785
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPRN,MTG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004785
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,INPP5A,CFAP46,TUBGCP2,KNDC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004905
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,MGMT,EBF3,GLRX3,TCERG1L,C10orf143
kanduri_15_ASD_discovery_cases-case1845
De novo
Unknown
Unknown
CYP2E1,SYCE1
krumm_13_ASD_discovery_cases-case11561.p1
Maternal
Simplex
Not segregated
LINC01167,LINC01166,LINC01168,CFAP46
krumm_13_ASD_discovery_cases-case13162.p1
Maternal
Simplex
Not segregated
ECHS1
krumm_15_ASD_discovery_cases-case11066.p1
Illumina 1M
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11075.p1
Illumina 1M
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11085.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11148.p1
Illumina 1M
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11181.p1
Illumina 1M
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11234.p1
Illumina 1M
Maternal
Simplex
Segregated
ZNF511-PRAP1,CALY
krumm_15_ASD_discovery_cases-case11247.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11331.p1
Illumina 1M
Paternal
Simplex
Segregated
OR6L1P,FRG2B,CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11376.p1
Illumina 1M
Maternal
Simplex
Segregated
SPRN,OR7M1P,MTG1,SCART1,CYP2E1,OR6L2P,SYCE1
krumm_15_ASD_discovery_cases-case11397.p1
Illumina 1M
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11409.p1
Illumina 1M
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11413.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11436.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11445.p1
Illumina 1M
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11464.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11491.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11497.p1
Illumina 1M
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11498.p1
Illumina 1M
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11505.p1
Illumina 1M
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11546.p1
Illumina 1M
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11561.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
LINC01167,LINC01166,LINC01168,CFAP46
krumm_15_ASD_discovery_cases-case11575.p1
Illumina 1M
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11578.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
LINC01167,LINC01166,LINC01168,CFAP46
krumm_15_ASD_discovery_cases-case11625.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11627.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11665.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
OR6L1P,FRG2B,CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11707.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11773.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11892.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case11928.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
BANF1P2,FUOM,ZNF511-PRAP1,CALY,PRAP1,ECHS1
krumm_15_ASD_discovery_cases-case12028.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
ZNF511-PRAP1,CALY
krumm_15_ASD_discovery_cases-case12115.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case12118.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
LINC01165,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,STK32C,INPP5A,JAKMIP3
krumm_15_ASD_discovery_cases-case12192.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
ZNF511-PRAP1,CALY
krumm_15_ASD_discovery_cases-case12281.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
SPRN,OR7M1P,MTG1,SCART1,CYP2E1,OR6L2P,SYCE1
krumm_15_ASD_discovery_cases-case12316.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
OR6L1P,FRG2B,CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case12399.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case12417.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
PAOX
krumm_15_ASD_discovery_cases-case12426.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case12429.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case12467.p1
1M-Duov3
Maternal
Simplex
Segregated
OR6L1P,FRG2B,CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case12469.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
ZNF511-PRAP1,CALY
krumm_15_ASD_discovery_cases-case12504.p1
1M-Duov3
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case12517.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case12526.p1
1M-Duov3
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case12742.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case12786.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case12787.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case12900.p1
1M-Duov3
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case12922.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case12924.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CFAP46
krumm_15_ASD_discovery_cases-case12997.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13010.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13027.p1
1M-Duov3
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13042.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13071.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13072.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13199.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13305.p1
1M-Duov3
Paternal
Simplex
Segregated
RPL5P28,ADGRA1,KNDC1
krumm_15_ASD_discovery_cases-case13317.p1
1M-Duov3
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13394.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13405.p1
1M-Duov3
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13501.p1
1M-Duov3
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13552.p1
1M-Duov3
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13579.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13587.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13690.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13737.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13792.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13835.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13839.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13847.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13874.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13933.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
OR6L1P,FRG2B,CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13962.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13983.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case13997.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case14016.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case14023.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case14026.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case14036.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
OR6L1P,FRG2B,CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case14050.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case14059.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case14082.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case14090.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case14134.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case14135.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case14172.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case14235.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case14279.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case14374.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case14406.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
CYP2E1,SYCE1
krumm_15_ASD_discovery_cases-case14491.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
CYP2E1,SYCE1
leppa_16_ASD_discovery_cases-AU3729301
Maternal
Multiplex
Not segregated (CNV not present in affected sibling)
LINC01164,PPP2R2D
levchenko_22_DD/ID_discovery_cases-caseD856
Unknown
ADAM8,BNIP3,ECHS1,CYP2E1,VENTX,CALY,CFAP46,PPP2R2D,LRRC27,ADGRA1,OR6L2P,OR7M1P,SYCE1,MTG1,NKX6-2,KNDC1,ZNF511,PRAP1,LINC02870,PAOX,PWWP2B,INPP5A,STK32C,JAKMIP3,FUOM,LINC01168,OR6L1P,BANF1P2,SCART1,SPRN,MIR202,ADGRA1-AS1,LINC01165,RPL5P28,MIR3944,MIR202HG,LINC01166,LINC01167,ZNF511-PRAP1,UTF1,DPYSL4,TUBGCP2
levy_11_ASD_discovery_cases-11231.p1
Paternal
Simplex
Not segregated
SPRN,OR7M1P,OR6L1P,MTG1,SCART1,CYP2E1,OR6L2P,SYCE1
lintas_17_ASD_discovery_cases-case2.1
Validation by visual inspection, RT-PCR, or PCR
Maternal
Multiplex
Segregated (CNV observed in all both affected siblings)
OR7M1P,SCART1,CYP2E1,SYCE1
lintas_17_ASD_discovery_cases-case2.2
Validation by visual inspection, RT-PCR, or PCR
Maternal
Multiplex
Segregated (CNV observed in all both affected siblings)
OR7M1P,SCART1,CYP2E1,SYCE1
lintas_17_ASD_discovery_cases-case9.2
Validation by visual inspection, RT-PCR, or PCR
Maternal
Multiplex
Not segregated (CNV only observed in 1/2 affected siblings)
OR7M1P,SCART1,CYP2E1,SYCE1
li_18_ASD_discovery_cases-case6001
Unknown
Simplex
Unknown
OR7M1P,SCART1,CYP2E1,OR6L2P,SYCE1
lopes_17_ASD/DD/ID_discovery_cases-case1
qPCR
De novo
Simplex
Likely segregated
MGMT,EBF3,GLRX
maini_18_ASD/DD/ID_discovery_cases-case54
De novo
Not simplex
Likely not segregated
MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,C10orf143,JAKMIP3,KNDC1
marcou_17_DD/ID_discovery_cases-case1
Unknown
Simplex
Unknown
OR7M1P,SCART1,CYP2E1,SYCE1
marshall_08_ASD_discovery_cases-NA0138-000
qPCR, qmPCR
Unknown
NA
NA
LINC01164,PPP2R2D
morris_12_ID_discovery_cases-case1
Maternal (with regards to similar dysmorphic syndrome, short staure, and obesity)
Unknown (possibly de novo, as translocation is apparently balanced in mother)
Simplex
Possibly segregated (with regards to ID)
MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,JAKMIP3,KNDC1
Reduced HDAC4 expression (23% of controls)
morrow_08_ASD_discovery_cases-case2701
Paternal
NA
NA
SYCE1
nava_13_ASD_discovery_cases-Fam1137Proband10782
Unknown
Simplex
Unknown
OR7M1P,OR6L1P,SCART1,CYP2E1,SYCE1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC66054
FISH
Unknown
Unknown
Unknown
MIR3944,SPRN,ECHS1,PAOX,MTG1,OR6L2P
o'roak_12_ASD_discovery_cases-case12118.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
LINC01165,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,STK32C,INPP5A,JAKMIP3
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient4
Maternal
Possibly multi-generational (brother of maternal grandfather affected by intellectual disability)
Unknown
OR7M1P,OR6L1P,SCART1,CYP2E1,SYCE1
pinto_10_ASD_discovery_cases-case1050_3
Illumina550;Affy5.0
paternal
NA
NA
LINC01167,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,CFAP46
pinto_10_ASD_discovery_cases-case5004_3
qPCR-Paternal,Agilent1M
paternal
Multiplex
Segregated
LINC01167,LINC01166,LINC01168,CFAP46
pinto_10_ASD_discovery_cases-case5017_3
qPCR
maternal
Multiplex
Unknown
CYP2E1, LOC619207, SYCE1
pinto_10_ASD_discovery_cases-case5270_3
Agilent1M
paternal
NA
NA
OR6L1P,FRG2B
pinto_10_ASD_discovery_cases-case5410_3
Agilent1M
maternal
NA
NA
LINC01164
pinto_10_ASD_discovery_cases-case5430_4
Agilent1M
maternal
NA
NA
MIR3944,ECHS1,PAOX,MTG1
poultney_13_ASD_discovery_cases-case98HI0240A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
OR6L1P,FRG2B,CYP2E1,SYCE1
poultney_13_ASD_discovery_cases-case98HI0603A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
OR6L1P,FRG2B,CYP2E1,SYCE1
poultney_13_ASD_discovery_cases-case99HI0694B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
OR6L1P,FRG2B,CYP2E1,SYCE1
poultney_13_ASD_discovery_cases-case99HI1157A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CFAP46
sanders_11_ASD_discovery_cases-11049.p1
Unknown
Simplex (quad-proband matched)
Segregated
DUX4, LOC653543, LOC653544, LOC653545, LOC728410
sanders_11_ASD_discovery_cases-11379.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01167,LINC01166,LINC01168,CFAP46
sanders_11_ASD_discovery_cases-11491.p1
Maternal
Simplex (quad-proband matched)
Segregated
ADAM8
sanders_11_ASD_discovery_cases-11543.p1
Unknown
Simplex (quad-proband matched)
Segregated
ADAM8,TUBGCP2
sanders_11_ASD_discovery_cases-11561.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01167,LINC01166,LINC01168,CFAP46
sanders_11_ASD_discovery_cases-11578.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01167,LINC01166,LINC01168,CFAP46
sanders_11_ASD_discovery_cases-11916.p1
Unknown
Simplex (quad-proband matched)
Not segregated
DUX4L13,DUX4L14,DUX4L15,RPL23AP60
sanders_11_ASD_discovery_cases-12032.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ADAM8,TUBGCP2
sanders_11_ASD_discovery_cases-12099.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ADAM8,TUBGCP2
sanders_11_ASD_discovery_cases-12118.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LINC01165,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,STK32C,JAKMIP3
sanders_11_ASD_discovery_cases-12118.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01164
sanders_11_ASD_discovery_cases-12130.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12130.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01164,PPP2R2D
sanders_11_ASD_discovery_cases-12149.p1
Paternal
Simplex (trio)
NA
MGMT
sanders_11_ASD_discovery_cases-12158.p1
Maternal
Simplex (trio)
NA
ADAM8,TUBGCP2
sanders_11_ASD_discovery_cases-12944.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ADAM8,TUBGCP2
sanders_11_ASD_discovery_cases-13162.p1
Maternal
Simplex (quad-proband matched)
Not segregated
BANF1P2,FUOM,ZNF511-PRAP1,CALY,PRAP1
sanders_11_ASD_discovery_cases-13327.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ADAM8,TUBGCP2
shen_10b_ASD_discovery_cases-caseII:5
Paternal
Simplex
Unknown
CYP2E1,SYCE1
shen_10b_ASD_discovery_cases-caseIII:1
Paternal
Paternal
Simplex (ASD), Multiplex (language delay)
Segregated
CYP2E1,SYCE1
shen_10_ASD_discovery_cases-ASD-09-050
De novo
NA
NA
MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,FRG2B,RARRES2P2,AGGF1P2,CLUHP5,DUX4L28,DUX4L25,DUX4L24,DUX4L23,DUX4L22,DUX4L21,DUX4L20,DUX4L29,DUX4L10,DUX4L11,DUX4L12,DUX4L13,DUX4L14,DUX4L15,RPL23AP60,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,C10orf143,JAKMIP3,KNDC1
soueid_16_ASD_discovery_cases-caseBAK41
Paternal
Simplex
OR7M1P,SCART1,CYP2E1,SYCE1
soueid_16_ASD_discovery_cases-caseCLIN24
De novo
Simplex
OR7M1P,SCART1,CYP2E1,SYCE1
stamouli_18_ASD/NDD_discovery_cases-family24_Twin_2
Unknown
Simplex
Segregated (CNV not present in unaffected twin)
stamouli_18_ASD/NDD_discovery_cases-family36_Twin_1
Unknown
Multiplex
Not segregated (CNV not present in affected twin)
ADAM8,TUBGCP2
walker_13_ASD_discovery_cases-case8-14186-3050
Unknown
Simplex
Unknown
LINC01164,PPP2R2D,BNIP3
wenger_16_ASD_discovery_cases-case43
Unknown
BANF1P2,FUOM,ZNF511-PRAP1,CALY,PRAP1,ECHS1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB100121_1007854727
Unknown
OR6L1P,FRG2B,RARRES2P2,AGGF1P2,CLUHP5,DUX4L28,DUX4L25,DUX4L24,DUX4L23,DUX4L22,DUX4L21,DUX4L20,DUX4L29,DUX4L10,DUX4L11,DUX4L12,DUX4L13,DUX4L14,DUX4L15,RPL23AP60
engchuan_15_ASD_discovery_controls-controlB333151_1007853867
Unknown
LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,FRG2B,RARRES2P2,AGGF1P2,CLUHP5,DUX4L28,DUX4L25,DUX4L24,DUX4L23,DUX4L22,DUX4L21,DUX4L20,DUX4L29,DUX4L10,DUX4L11,DUX4L12,DUX4L13,DUX4L14,DUX4L15,RPL23AP60,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,KNDC1
engchuan_15_ASD_discovery_controls-controlB346627_1007872552
Unknown
LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,CFAP46,TUBGCP2,KNDC1
engchuan_15_ASD_discovery_controls-controlB356202_1007844561
Unknown
OR6L1P,FRG2B,RARRES2P2,AGGF1P2,CLUHP5,DUX4L28,DUX4L25,DUX4L24,DUX4L23,DUX4L22,DUX4L21,DUX4L20,DUX4L29,DUX4L10,DUX4L11,DUX4L12,DUX4L13,DUX4L14,DUX4L15,RPL23AP60
engchuan_15_ASD_discovery_controls-controlB438466_1007853689
Unknown
LINC01167,LINC01166,LINC01168,CFAP46
engchuan_15_ASD_discovery_controls-controlB555308_1007853571
Unknown
BANF1P2,FUOM,ZNF511-PRAP1,CALY,PRAP1,ECHS1
engchuan_15_ASD_discovery_controls-controlB885552_1007853677
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900116_900116
Unknown
LINC01164
engchuan_15_ASD_discovery_controls-controlHABC_900334_900334
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900370_900370
Unknown
LINC01167,LINC01166,LINC01168,CFAP46
engchuan_15_ASD_discovery_controls-controlHABC_900389_900389
Unknown
LINC01167,LINC01166,LINC01168,CFAP46
engchuan_15_ASD_discovery_controls-controlHABC_901047_901047
Unknown
OR6L1P,FRG2B
engchuan_15_ASD_discovery_controls-controlHABC_902559_902559
Unknown
OR6L1P,CYP2E1,SYCE1
girirajan_13b_ASD_discovery_controls-11210113056
Unknown
NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,INPP5A,CFAP46,TUBGCP2,KNDC1
krumm_13_ASD_discovery_controls-control11561.s1
Maternal
Simplex
LINC01167,LINC01166,LINC01168,CFAP46
krumm_13_ASD_discovery_controls-control13162.s1
Solid phase hybridization (Illumina 1M) (not tested by aCGH)
Maternal
Simplex
FUOM,ECHS1
krumm_13_ASD_discovery_controls-control14110.s1
Maternal
Simplex
KNDC1
krumm_15_ASD_discovery_controls-control11037.s1
Illumina 1M
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control11051.s1
Illumina 1M
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control11085.s1
Illumina 1M
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control11247.s1
Illumina 1M
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control11413.s1
Illumina 1M
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control11436.s1
Illumina 1M
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control11491.s1
Illumina 1MDuo
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control11543.s1
Illumina 1MDuo
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control11561.s1
Illumina 1M
Maternal
LINC01167,LINC01166,LINC01168,CFAP46
krumm_15_ASD_discovery_controls-control11568.s1
Illumina 1M
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control11578.s1
Illumina 1M
Paternal
LINC01167,LINC01166,LINC01168,CFAP46
krumm_15_ASD_discovery_controls-control11676.s1
Illumina 1M
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control11773.s1
Illumina 1MDuo
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control11835.s1
Illumina 1MDuo
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control11892.s1
Illumina 1MDuo
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control12083.s1
Illumina 1MDuo
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control12115.s1
Illumina 1MDuo
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control12187.s1
Illumina 1MDuo
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control12201.s1
Illumina 1MDuo
Maternal
OR6L1P,FRG2B,CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control12235.s1
Illumina 1MDuo
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control12261.s1
Illumina 1MDuo
Paternal
OR6L1P,FRG2B,CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control12316.s1
Illumina 1MDuo
Paternal
OR6L1P,FRG2B,CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control12399.s1
1M-Duov3
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control12679.s1
Illumina 1MDuo
Maternal
MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,FRG2B,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,TUBGCP2,OR6L2P,SYCE1
krumm_15_ASD_discovery_controls-control12787.s1
Illumina 1MDuo
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control12788.s1
Illumina 1MDuo
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control12794.s1
Illumina 1MDuo
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control12803.s1
1M-Duov3
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control12921.s1
Illumina 1MDuo
Maternal
OR6L1P,FRG2B,CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control12922.s1
1M-Duov3
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control12924.s1
Illumina 1MDuo
Paternal
CFAP46
krumm_15_ASD_discovery_controls-control13034.s1
1M-Duov3
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control13047.s1
Omni2.5-4v1
Maternal
OR6L1P,FRG2B,CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control13071.s1
1M-Duov3
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control13072.s1
Illumina 1MDuo
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control13166.s1
Illumina 1MDuo
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control13307.s1
1M-Duov3
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control13394.s1
1M-Duov3
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control13509.s1
1M-Duov3
Maternal
ZNF511-PRAP1,CALY
krumm_15_ASD_discovery_controls-control13579.s1
1M-Duov3
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control13587.s1
1M-Duov3
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control13714.s1
Omni2.5-4v1
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control13792.s1
Omni2.5-4v1
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control13802.s1
Omni2.5-4v1
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control13804.s1
Omni2.5-4v1
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control13835.s1
Omni2.5-4v1
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control13839.s1
Omni2.5-4v1
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control13850.s1
Omni2.5-4v1
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control13856.s1
Omni2.5-4v1
Maternal
OR6L1P,FRG2B,CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control13864.s1
Omni2.5-4v1
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control13874.s1
Omni2.5-4v1
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control13882.s1
Omni2.5-4v1
Paternal
NKX6-2,LINC01167,LINC01166,LINC01168,ADGRA1,INPP5A,CFAP46
krumm_15_ASD_discovery_controls-control13997.s1
Omni2.5-4v1
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control14016.s1
Omni2.5-4v1
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control14082.s1
Omni2.5-4v1
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control14090.s1
Omni2.5-4v1
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control14115.s1
Omni2.5-4v1
Maternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control14134.s1
Omni2.5-4v1
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control14135.s1
Omni2.5-4v1
Paternal
SPRN,OR7M1P,MTG1,SCART1,CYP2E1,OR6L2P,SYCE1
krumm_15_ASD_discovery_controls-control14165.s1
Omni2.5-4v1
Paternal
CYP2E1,SYCE1
krumm_15_ASD_discovery_controls-control14279.s1
Omni2.5-4v1
Maternal
CYP2E1,SYCE1
levy_11_ASD_discovery_controls-11231.s1
Paternal
Simplex
NA
SPRN,OR7M1P,OR6L1P,MTG1,SCART1,CYP2E1,OR6L2P,SYCE1
poultney_13_ASD_discovery_controls-control05C43457A
Unknown
OR6L1P,FRG2B,CYP2E1,SYCE1
sanders_11_ASD_discovery_controls-11379.s1
Maternal
Simplex (quad)
NA
LINC01167,LINC01166,LINC01168,CFAP46
sanders_11_ASD_discovery_controls-11561.s1
Maternal
Simplex (quad)
NA
LINC01167,LINC01166,LINC01168,CFAP46
sanders_11_ASD_discovery_controls-11578.s1
Paternal
Simplex (quad)
NA
LINC01167,LINC01166,LINC01168,CFAP46
sanders_11_ASD_discovery_controls-11928.s1
Paternal
Simplex (quad)
NA
BANF1P2,FUOM,ZNF511-PRAP1,PRAP1,ECHS1
sanders_11_ASD_discovery_controls-12099.s1
Maternal
Simplex (quad)
NA
ADAM8,TUBGCP2
sanders_11_ASD_discovery_controls-12118.s1
Unknown
Simplex (quad)
NA
PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,STK32C,JAKMIP3
sanders_11_ASD_discovery_controls-12130.s1
Maternal
Simplex (quad)
NA
LINC01164,PPP2R2D
sanders_11_ASD_discovery_controls-12331.s1
Both parents
Simplex (quad)
NA
ZNF511-PRAP1,CALY
sanders_11_ASD_discovery_controls-12582.s1
Unknown
Simplex (quad)
NA
ADAM8,TUBGCP2
sanders_11_ASD_discovery_controls-12605.s1
Unknown
Simplex (quad)
NA
TUBGCP2
sherman_21_ASD_discovery_controls-SPARK_SP0133652
BNIP3,ADAM8,CYP2E1,ECHS1,VENTX,CALY,CFAP46,PPP2R2D,ADGRA1,OR6L2P,LRRC27,OR7M1P,NKX6-2,KNDC1,SYCE1,MTG1,PRAP1,ZNF511,PWWP2B,PAOX,LINC02870,INPP5A,JAKMIP3,FUOM,STK32C,TCERG1L,LINC01164,LINC01168,OR6L1P,BANF1P2,FRG2B,MIR202,SCART1,SPRN,AGGF1P2,RARRES2P2,ADGRA1-AS1,LINC01165,RPL5P28,CLUHP5,MIR3944,MIR202HG,LINC01166,ZNF511-PRAP1,LINC01167,UTF1,TUBGCP2,DPYSL4
soueid_16_ASD_discovery_controls-control10
LOC619207, CYP2E1, SYCE1
No Animal Model Data Available