2q11.2CNV Type: Deletion-Duplication
Largest CNV size: 379342 bp
Statistics Box:
Number of Reports: 24
Number of Reports: 24
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
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
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Deletion
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Deletion-Duplication
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
584
Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
N/A
N/A
294516
1
0
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
7390
1
0
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
2758
2
0
2
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
2696626
0
1
1
chung_11_ASD_discovery_cases
Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
1
ASD (ADI-R and ADOS, Module 3)
12
Female
20878
1
0
1
coe_14_ASD/DD/ID_discovery_cases
Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
29085
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
950000
6
4
10
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
42000
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
2015254
4
13
17
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
927965
1
0
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
935911
2
0
2
girirajan_13a_DD_discovery_cases
Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
31518
Developmental delay
NA
NA
935911
2
0
2
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
1997995
3
8
11
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
83099
0
4
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
143385
1
5
6
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
1015583
1
0
1
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
197025
0
13
13
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
90411
0
2
2
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
293432
0
1
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
84765
0
1
1
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)
122706
1
3
4
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
780104
0
2
2
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
201138
2
1
3
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
379342
13
5
18
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
129000
1
0
1
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
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
50604
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
119212
1
1
2
coe_14_ASD/DD/ID_discovery_controls
Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
19584
Control
N/A
N/A
950000
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
566353
10
9
19
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
927965
NA
NA
NA
girirajan_13a_ASD_discovery_controls3
Controls assessed for CNVs within 120 SD-mediated hotspots; includes 2090 controls from Wellcome Trust Case-Control Consortium (girirajan_13_ASD_discovery_controls2)
8329
Control
NA
NA
0
0
0
0
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
378721
1
1
2
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
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
81938
1
3
4
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
82625
0
5
5
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
197025
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
90411
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
424300
2
4
6
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
780104
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
846552
9
8
17
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
129000
1
0
1
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
50604
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Saudi Arabia
Array SNP
Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
HMM
Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
None
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
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
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
chung_11_ASD_discovery_cases
Scottish-Canadian
Array SNP
Affymetrix 6.0
HMM
Affymetrix Genotyping Console v.2.1, Birdseed v.2
coe_14_ASD/DD/ID_discovery_cases
N/A
aCGH
N/A
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
girirajan_13a_DD_discovery_cases
NA
N/A
N/A
None
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
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
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
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
coe_14_ASD/DD/ID_discovery_controls
N/A
aCGH, solid phase hybridization
Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
girirajan_13a_ASD_discovery_controls3
NA
Array SNP
N/A
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
larson_17_ASD_discovery_controls
N/A
N/A
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case12DG0055
N/A
N/A
MCA
Coloboma, bilateral microphthalmia and microcornea, right facial nerve palsy, dysphagia, conductive hearing loss, hemivertebra, scoliosis, and bifid spine (CHARGE-like). Non-consanguineous parents.
97065382
97285797
220416
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-case2-1561-003
N/A
M
ASD
Case from MSSNG cohort
99421919
99429308
7390
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11098
NA
M
ASD
NA
NA
97513266
97516024
2759
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11399
NA
M
ASD
NA
NA
101698006
101698472
467
GRCh38
Deletion
No
chaves_24_ASD/DD/ID_discovery_cases-case511
M
ASD and intellectual disability
ASD, tall stature, congenital anomalies and facial dysmorphism. Karyotype: 47,XY+mar(64%)/48,XY, ++mar(6%).
Intellectual disability
98606452
101303077
2696626
GRCh38
Duplication
No
chung_11_ASD_discovery_cases-proband
12
F
ASD
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
97524837
97545714
20878
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case541
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
96060525
97010536
950012
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case542
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
96060525
97010536
950012
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case543
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
96060525
97010536
950012
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case544
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
96060525
97010536
950012
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case545
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
96060525
97010536
950012
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case546
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
96060525
97010536
950012
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case547
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
96060525
97010536
950012
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case548
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
96060525
97010536
950012
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case549
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
96060525
97010536
950012
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case550
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
96060525
97010536
950012
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300074
N/A
F
Developmental delay/intellectual disability
99127005
99169617
42613
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14056_970
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99221740
99306504
84765
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case17009_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
101266584
101344441
77858
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20000_1010002
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99221740
99306504
84765
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2288_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
97861227
98070485
209259
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3309_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
97200092
97659389
459298
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3385_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
97087398
97267355
179958
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3418_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99221740
99299884
78145
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3484_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
97117673
97267355
149683
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3571_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99216756
99306504
89749
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3616_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
97489619
97658891
169273
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4236_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
98377951
100393206
2015256
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4548_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
97085273
97499218
413946
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5000_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
97068081
97267355
199275
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5244_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
97051608
97267355
215748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6312_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99221740
99300136
78397
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8451_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99221740
99306504
84765
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8651_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
97073320
97267355
194036
GRCh38
Deletion
No
girirajan_12_ASD/DD/ID_discovery_cases-case51723
3 yrs. 4 mos.
M
Developmental delay
Speech delay. Normal tone. Frontal lobe atrophy, hearing loss. Dysmorphic features: micrognathia, low-set ears, blepharophimosis. Congenital anomalies: cryptorchidism. Other features: strabismus, retinopathy, astigmatism. Growth parameters: weight 97th %ile, OFC 97th %ile. Family history: healthy parents.
NA
96077682
97005658
927977
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-12550.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
96084424
97020346
935923
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-14043.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
96084424
97020346
935923
GRCh38
Deletion
Yes
girirajan_13a_DD_discovery_cases-DDcase100
N/A
N/A
Developmental delay
N/A
N/A
96084424
97020346
935923
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase99
N/A
N/A
Developmental delay
N/A
N/A
96084424
97020346
935923
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000835
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
95879602
97029672
1150071
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001088
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
96100812
97267355
1166544
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002200
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
101080018
101646523
566506
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002259
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
95880668
97131646
1250979
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002743
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
97634165
97841153
206989
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002785
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
95806265
97267355
1461091
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004015
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
95810453
97024341
1213889
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004706
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
95879602
97267355
1387754
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005076
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
98787057
100785053
1997997
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005087
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
95916534
97024341
1107808
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005242
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
96100612
97267355
1166744
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11045.p1
N/A
F
ASD
ASD proband from SSC quad family 11045. SRS score of 60.
Full-scale IQ (FSIQ) score of 79.
101790719
101799643
8925
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11484.p1
N/A
M
ASD
ASD proband from SSC quad family 11484. SRS score of 76.
Full-scale IQ (FSIQ) score of 106.
97646086
97659477
13392
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13507.p1
N/A
M
ASD
ASD proband from SSC quad family 13507. SRS score of 46.
Full-scale IQ (FSIQ) score of 101.
97576378
97659477
83100
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13795.p1
N/A
F
ASD
ASD proband from SSC quad family 13795. SRS score of 90.
Full-scale IQ (FSIQ) score of 34.
99284392
99292640
8249
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11045.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
101790719
101799643
8925
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11099.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
97584943
97659003
74061
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11765.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
99242363
99295670
53308
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12853.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
99242363
99295670
53308
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13507.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
97555059
97660646
105588
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13968.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
98093092
98236477
143386
GRCh38
Deletion
Yes
kushima_18_SCZ_discovery_cases-caseSCZ1051
48 yrs.
M
Schizophrenia, ID
Behavioral/psychiatric evaluation: onset of schizophrenia at 16 years of age (core symptoms include delusions, hallucinations, agitated and violent behavior, negative symptoms). Brain imaging: hippocampal atrophy on brain CT. Family history: positive for intellectual disability (ID).
Intellectual disability (IQ < 70)
96063558
97079140
1015583
GRCh38
Deletion
N/A
larson_17_ASD_discovery_cases-case28
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
97099593
97212320
112728
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case29
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
97099593
97212320
112728
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case30
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
97099593
97212320
112728
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case31
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
97099593
97212320
112728
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case32
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
97099593
97212320
112728
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case33
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
97099593
97212320
112728
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case34
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
97099593
97212320
112728
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case35
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
97099593
97212320
112728
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case36
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
97521961
97549529
27569
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case37
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
97521961
97549529
27569
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case38
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
97521961
97549529
27569
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case39
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
97521961
97549529
27569
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case44
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
97015295
97212320
197026
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11045.p1
NA
F
ASD
NA
NA
101759366
101812346
52981
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11765.p1
NA
M
ASD
NA
NA
99217230
99307640
90411
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5000_3
NA
F
ASD
NA
NA
97068081
97267355
199275
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case20000_1010002
N/A
F
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
99221740
99306504
84765
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case00HI1465A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU032706; NDAR ID NDAR_INVTU259PHM)
97084167
97118525
34359
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case04HI3272A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1158302; NDAR ID NDAR_INVHN818LB9)
97536300
97659005
122706
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0098B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU015703; NDAR ID N/A)
100566501
100576498
9998
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1043A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU006305; NDAR ID NDAR_INVRH216ZC3)
100566501
100576498
9998
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case47173L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
99091635
99871738
780104
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case86605L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
99109302
99165206
55905
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseDR08-020a1
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
97160375
97267355
106981
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-125
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: N/A. Seizures: N/A.
Developmental delay: N/A. Intellectual disability: N/A.
98099401
98222904
123504
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-375
N/A
N/A
CBLH-PMG
Diagnosis of cerebellar hypoplasia (CBLH) and polymicrogyria (PMG).
99221740
99306504
84765
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11004.p1
15.8
M
ASD
NA
Full-scale IQ, 59; non-verbal IQ, 74; verbal IQ, 31
97194096
97227072
32977
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11111.p1
7.4
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ 100
97194096
97215530
21435
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11134.p1
13.6
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
98957008
99216756
259749
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11252.p1
6.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96
97085273
97267355
182083
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11258.p1
14.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 96
97194096
97215530
21435
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11378.p1
9.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 91; verbal IQ, 48
97194096
97227072
32977
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11484.p1
10.8
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 104
97489619
97657198
167580
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11526.p1
7.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
97194096
97227072
32977
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11657.p1
4.9
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 75; verbal IQ, 73
100179786
100213886
34101
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11679.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 106; verbal IQ, 84
102045710
102054606
8897
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11765.p1
11.2
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
99216756
99306504
89749
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11917.p1
8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 115; verbal IQ, 71
97179363
97513270
333908
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11981.p1
6.6
F
Aspergers
NA
Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 100
97861227
98070485
209259
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12158.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100
97194096
97205577
11482
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12785.p1
7.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
97073320
97499231
425912
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12828.p1
9.3
F
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 57; verbal IQ, 66
97044562
97267355
222794
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12853.p1
9.8
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 94
99221740
99271994
50255
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13152.p1
7.3
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 78
97348020
97359885
11866
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseSAI36
N/A
Autism
Case fulfilled DSM-V criteria for autism; no other information available
97307772
97422164
114393
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case74
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
98639438
98690041
50604
GRCh38
Deletion
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
brandler_18_ASD_discovery_controls-controlREACH000340
N/A
M
Control
Control from REACH cohort
96455564
96574776
119213
GRCh38
Duplication
Yes
brandler_18_ASD_discovery_controls-controlSSC05183
N/A
F
Control
Control from SSC cohort
99342009
99348436
6428
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-control110036015501_
N/A
N/A
Control
No previous psychiatric history
97087398
97585795
498398
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB140638_1007853950
N/A
N/A
Control
No previous psychiatric history
97073320
97492322
419003
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB253888_1007853986
N/A
N/A
Control
No previous psychiatric history
97489619
97659389
169771
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB285779_1007874679
N/A
N/A
Control
No previous psychiatric history
97051608
97267355
215748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB347545_0067942603
N/A
N/A
Control
No previous psychiatric history
97051608
97267355
215748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB524961_1007872292
N/A
N/A
Control
No previous psychiatric history
97051608
97585795
534188
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB536568_1007854032
N/A
N/A
Control
No previous psychiatric history
97073320
97492322
419003
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB613109_1007875803
N/A
N/A
Control
No previous psychiatric history
100070024
100144847
74824
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB675310_1007874657
N/A
N/A
Control
No previous psychiatric history
99221740
99306504
84765
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB747096_1007854180
N/A
N/A
Control
No previous psychiatric history
99221740
99302092
80353
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB757128_1007874832
N/A
N/A
Control
No previous psychiatric history
97984887
98551240
566354
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB809518_0057061032
N/A
N/A
Control
No previous psychiatric history
97085273
97492048
406776
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900201_900201
N/A
N/A
Control
No previous psychiatric history
97489619
97659389
169771
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900250_900250
N/A
N/A
Control
No previous psychiatric history
97117673
97267355
149683
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900943_900943
N/A
N/A
Control
No previous psychiatric history
97086560
97492322
405763
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901132_901132
N/A
N/A
Control
No previous psychiatric history
97081697
97492322
410626
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901140_901140
N/A
N/A
Control
No previous psychiatric history
97081697
97492322
410626
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901223_901223
N/A
N/A
Control
No previous psychiatric history
99221740
99306504
84765
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901266_901266
N/A
N/A
Control
No previous psychiatric history
97085273
97267355
182083
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-10208109404
N/A
N/A
Control
Ethnicity: Asian
N/A
95693087
96071808
378722
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-2105102564
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
96711139
96764130
52992
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control11484.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11484. SRS score of 43.
97647066
97659477
12412
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_controls-control13166.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13166. SRS score of 39.
98250317
98256174
5858
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13507.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13507. SRS score of 37.
97576378
97658316
81939
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13508.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13508. SRS score of 41.
99242363
99295670
53308
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11765.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
99242363
99295670
53308
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12091.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
97576378
97659003
82626
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12853.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
99242363
99295670
53308
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13508.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
99242363
99295670
53308
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13531.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
97584943
97659477
74535
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11765.s1
NA
F
Control
NA
NA
99217230
99307640
90411
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C28851A
N/A
M
Control
NIMH Control (NIMH ID 46341)
97513180
97560860
47681
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C31069A
N/A
M
Control
NIMH Control (NIMH ID 68756)
97888052
98312351
424300
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C32509B
N/A
M
Control
NIMH Control (NIMH ID 73661)
97083946
97118525
34580
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C37424A
N/A
M
Control
NIMH Control (NIMH ID 98134)
97084167
97118525
34359
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C38812A
N/A
F
Control
NIMH Control (NIMH ID 76987)
98093091
98194494
101404
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44633
N/A
F
Control
NIMH Control (NIMH ID 59719)
97551452
97659005
107554
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11032.s1
3.7
M
Control (matched sibling)
NA
NA
97194096
97211854
17759
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11073.s1
7.8
F
Control (matched sibling)
NA
NA
97194096
97211854
17759
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11124.s1
13.3
M
Control (matched sibling)
NA
NA
96006253
96035209
28957
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11252.s1
11.4
M
Control (matched sibling)
NA
NA
97086560
97499231
412672
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11330.s1
11.8
F
Control (matched sibling)
NA
NA
97073320
97267355
194036
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11512.s1
4.3
F
Control (matched sibling)
NA
NA
97117673
97227072
109400
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11679.s1
4
M
Control (matched sibling)
NA
NA
102045710
102054606
8897
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11765.s1
7.8
F
Control (matched sibling)
NA
NA
99216756
99306504
89749
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11917.s1
4.3
F
Control (matched sibling)
NA
NA
97208827
97391818
182991
NCBI36
Deletion
No
sanders_11_ASD_discovery_controls-11948.s1
11.8
M
Control (matched sibling)
NA
NA
97117673
97205577
87905
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11990.s1
13.4
M
Control (matched sibling)
NA
NA
97117673
97194486
76814
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12091.s1
7.2
M
Control (matched sibling)
NA
NA
97489619
97658920
169302
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12701.s1
10.4
M
Control (matched sibling)
NA
NA
97086560
97267355
180796
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12851.s1
5.8
M
Control (matched sibling)
NA
NA
97179363
97585795
406433
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12851.s1
5.8
M
Control (matched sibling)
NA
NA
96065361
96911924
846564
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12853.s1
8
M
Control (matched sibling)
NA
NA
99216756
99302081
85326
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13166.s1
5.6
M
Control (matched sibling)
NA
NA
98245634
98270203
24570
GRCh38
Deletion
No
soueid_16_ASD_discovery_controls-control7
N/A
N/A
Control
97307772
97422164
114393
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case12DG0055
Unknown
Unknown
Unknown
GPAT2P2,RN7SL313P,FAHD2B,ANKRD36
brandler_18_ASD_replication_cases-case2-1561-003
No validation step reported
Paternal
REV1
celestino-soper_11_ASD_discovery_cases-11098
Unknown
Simplex
NA
ANKRD36B
celestino-soper_11_ASD_discovery_cases-11399
Unknown
Simplex
NA
MAP4K4
chaves_24_ASD/DD/ID_discovery_cases-case511
Unknown
MRPL30,REV1,LIPT1,CNOT11,PDCL3,TSGA10,RALBP1P2,NMS,MITD1,LYG1,LINC01104,C2orf15,CYCSP7,LONRF2,LYG2,RNF149,CRACDL,SMC3P1,COA5,ARPP19P2,SNORD89,YWHAQP5,NPAS2,AFF3,RNU7-46P,TBC1D8-AS1,NANOGNBP1,HMGN2P22,LINC02611,NPAS2-AS1,RPL31,LINC01849,BBIP1P1,RNU4-84P,LINC01868,EIF5B,CHST10,TXNDC9,MGAT4A,TBC1D8,UNC50
chung_11_ASD_discovery_cases-proband
Maternal
Simplex
NA
ANKRD36B
coe_14_ASD/DD/ID_discovery_cases-case541
Unknown
Unknown
Unknown
ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C
coe_14_ASD/DD/ID_discovery_cases-case542
Unknown
Unknown
Unknown
ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C
coe_14_ASD/DD/ID_discovery_cases-case543
Unknown
Unknown
Unknown
ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C
coe_14_ASD/DD/ID_discovery_cases-case544
Unknown
Unknown
Unknown
ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C
coe_14_ASD/DD/ID_discovery_cases-case545
Unknown
Unknown
Unknown
ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C
coe_14_ASD/DD/ID_discovery_cases-case546
Unknown
Unknown
Unknown
ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C
coe_14_ASD/DD/ID_discovery_cases-case547
Unknown
Unknown
Unknown
ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C
coe_14_ASD/DD/ID_discovery_cases-case548
Unknown
Unknown
Unknown
ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C
coe_14_ASD/DD/ID_discovery_cases-case549
Unknown
Unknown
Unknown
ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C
coe_14_ASD/DD/ID_discovery_cases-case550
Unknown
Unknown
Unknown
ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C
digregorio_17_DD/ID_discovery_cases-DECIPHER_300074
Unknown
C2orf15,LIPT1,MITD1,TSGA10
engchuan_15_ASD_discovery_cases-case14056_970
Unknown
LYG2,LYG1
engchuan_15_ASD_discovery_cases-case17009_1
Unknown
SNORD89,MIR5696,CNOT11,RNF149
engchuan_15_ASD_discovery_cases-case20000_1010002
Unknown
LYG2,LYG1
engchuan_15_ASD_discovery_cases-case2288_1
Unknown
RNU7-96P,TMEM131
engchuan_15_ASD_discovery_cases-case3309_3
Unknown
IGKV1OR2-9,IGKV2OR2-10,IGKV2OR2-7D,IGKV3OR2-5,IGKV1OR2-6,IGKV2OR2-7,IGKV2OR2-8,IGKV1OR2-11,UBTFL6,COX5B,ACTR1B,ANKRD36,ANKRD36B
engchuan_15_ASD_discovery_cases-case3385_3
Unknown
RN7SL313P,FAHD2B,ANKRD36
engchuan_15_ASD_discovery_cases-case3418_3
Unknown
LYG2,LYG1
engchuan_15_ASD_discovery_cases-case3484_3
Unknown
ANKRD36
engchuan_15_ASD_discovery_cases-case3571_4
Unknown
LYG2,LYG1
engchuan_15_ASD_discovery_cases-case3616_3
Unknown
UBTFL6,COX5B,ACTR1B,ANKRD36B
engchuan_15_ASD_discovery_cases-case4236_1
Unknown
COA5,YWHAQP5,RNU4-84P,RNU7-46P,C2orf15,CNGA3,UNC50,LIPT1,MITD1,MRPL30,LYG2,LYG1,TXNDC9,LINC01104,LONRF2,MGAT4A,KIAA1211L,TSGA10,EIF5B,REV1,CHST10,INPP4A,AFF3
engchuan_15_ASD_discovery_cases-case4548_1
Unknown
RN7SL313P,IGKV1OR2-9,IGKV2OR2-10,IGKV2OR2-7D,IGKV3OR2-5,IGKV1OR2-6,IGKV2OR2-7,IGKV2OR2-8,IGKV1OR2-11,FAHD2B,ANKRD36,ANKRD36B
engchuan_15_ASD_discovery_cases-case5000_3
Unknown
GPAT2P2,RN7SL313P,FAHD2B,ANKRD36
engchuan_15_ASD_discovery_cases-case5244_3
Unknown
IGKV1OR2-3,GPAT2P2,RN7SL313P,FAHD2B,ANKRD36
engchuan_15_ASD_discovery_cases-case6312_4
Unknown
LYG2,LYG1
engchuan_15_ASD_discovery_cases-case8451_201
Unknown
LYG2,LYG1
engchuan_15_ASD_discovery_cases-case8651_201
Unknown
GPAT2P2,RN7SL313P,FAHD2B,ANKRD36
girirajan_12_ASD/DD/ID_discovery_cases-case51723
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C
girirajan_13a_ASD_discovery_cases-12550.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C
girirajan_13a_ASD_discovery_cases-14043.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C
girirajan_13a_DD_discovery_cases-DDcase100
Unknown
ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C
girirajan_13a_DD_discovery_cases-DDcase99
Unknown
ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000835
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RN7SL210P,FAHD2CP,ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,GPAT2,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,TRIM43CP,ANKRD36C,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001088
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,IGKV2OR2-1,IGKV2OR2-2,IGKV1OR2-3,GPAT2P2,RN7SL313P,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,TRIM43CP,FAHD2B,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C,ANKRD36
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002200
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SNORD89,MIR5696,TBC1D8-AS1,CNOT11,RNF149,CREG2,LINC01870,TBC1D8,RFX8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002259
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RN7SL210P,FAHD2CP,ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,IGKV2OR2-1,IGKV2OR2-2,IGKV1OR2-3,GPAT2P2,RN7SL313P,GPAT2,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,TRIM43CP,FAHD2B,ANKRD36C,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C,ANKRD36
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002743
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
UBTFL6,COX5B,ACTR1B,RNU4-8P,HMGN1P36,C2orf92,ZAP70,TMEM131
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002785
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RN7SL210P,FAHD2CP,ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,IGKV2OR2-1,IGKV2OR2-2,IGKV1OR2-3,GPAT2P2,RN7SL313P,GPAT2,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,TRIM43CP,FAHD2B,LINC00342,ANKRD36C,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C,ANKRD36
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004015
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL210P,FAHD2CP,ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,GPAT2,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,LINC00342,ANKRD36C,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004706
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RN7SL210P,FAHD2CP,ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,IGKV2OR2-1,IGKV2OR2-2,IGKV1OR2-3,GPAT2P2,RN7SL313P,GPAT2,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,TRIM43CP,FAHD2B,ANKRD36C,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C,ANKRD36
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005076
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-46P,C2orf15,HMGN2P22,LINC01849,NANOGNBP1,LINC01868,LIPT1,MITD1,MRPL30,LYG2,LYG1,TXNDC9,LINC01104,LONRF2,NMS,PDCL3,KIAA1211L,TSGA10,EIF5B,REV1,CHST10,AFF3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005087
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RN7SL210P,FAHD2CP,ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,GPAT2,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,ANKRD36C,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005242
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,IGKV2OR2-1,IGKV2OR2-2,IGKV1OR2-3,GPAT2P2,RN7SL313P,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,TRIM43CP,FAHD2B,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C,ANKRD36
krumm_13_ASD_discovery_cases-case11045.p1
aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
Segregated
MAP4K4
krumm_13_ASD_discovery_cases-case11484.p1
Maternal
Simplex
Not segregated
COX5B,ACTR1B
krumm_13_ASD_discovery_cases-case13507.p1
Paternal
Simplex
Not segregated
UBTFL6,COX5B,ACTR1B,ANKRD36B
krumm_13_ASD_discovery_cases-case13795.p1
Maternal
Simplex
Not segregated
LYG1
krumm_15_ASD_discovery_cases-case11045.p1
Illumina 1M
Maternal
Simplex
Segregated
MAP4K4
krumm_15_ASD_discovery_cases-case11099.p1
Illumina 1M
Maternal
Simplex
Segregated
UBTFL6,COX5B,ACTR1B,ANKRD36B
krumm_15_ASD_discovery_cases-case11765.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
LYG2,LYG1
krumm_15_ASD_discovery_cases-case12853.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
LYG2,LYG1
krumm_15_ASD_discovery_cases-case13507.p1
1M-Duov3
Paternal
Simplex
Segregated
UBTFL6,COX5B,ACTR1B,ANKRD36B
krumm_15_ASD_discovery_cases-case13968.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
ATP5F1BP1,VWA3B
kushima_18_SCZ_discovery_cases-caseSCZ1051
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
ADRA2B,DUSP2,ITPRIPL1,MIR3127,RNA5SP101,IGKV2OR2-1,IGKV2OR2-2,IGKV1OR2-3,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,TRIM43CP,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C
larson_17_ASD_discovery_cases-case28
Unknown
Unknown
RN7SL313P,ANKRD36
larson_17_ASD_discovery_cases-case29
Unknown
Unknown
RN7SL313P,ANKRD36
larson_17_ASD_discovery_cases-case30
Unknown
Unknown
RN7SL313P,ANKRD36
larson_17_ASD_discovery_cases-case31
Unknown
Unknown
RN7SL313P,ANKRD36
larson_17_ASD_discovery_cases-case32
Unknown
Unknown
RN7SL313P,ANKRD36
larson_17_ASD_discovery_cases-case33
Unknown
Unknown
RN7SL313P,ANKRD36
larson_17_ASD_discovery_cases-case34
Unknown
Unknown
RN7SL313P,ANKRD36
larson_17_ASD_discovery_cases-case35
Unknown
Unknown
RN7SL313P,ANKRD36
larson_17_ASD_discovery_cases-case36
Unknown
Unknown
ANKRD36B
larson_17_ASD_discovery_cases-case37
Unknown
Unknown
ANKRD36B
larson_17_ASD_discovery_cases-case38
Unknown
Unknown
ANKRD36B
larson_17_ASD_discovery_cases-case39
Unknown
Unknown
ANKRD36B
larson_17_ASD_discovery_cases-case44
Unknown
Unknown
IGKV2OR2-1,IGKV2OR2-2,IGKV1OR2-3,GPAT2P2,RN7SL313P,TRIM43CP,FAHD2B,ANKRD36
levy_11_ASD_discovery_cases-11045.p1
Maternal
Simplex
Segregated
MAP4K4
levy_11_ASD_discovery_cases-11765.p1
Paternal
Simplex
Not segregated
LYG2,LYG1
pinto_10_ASD_discovery_cases-case5000_3
Agilent1M
paternal
NA
NA
GPAT2P2,RN7SL313P,FAHD2B,ANKRD36
pinto_14_ASD_discovery_cases2-case20000_1010002
qPCR
Maternal
Simplex
(not tested)
LYG2,LYG1
poultney_13_ASD_discovery_cases-case00HI1465A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RN7SL313P,FAHD2B,ANKRD36
poultney_13_ASD_discovery_cases-case04HI3272A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
UBTFL6,COX5B,ACTR1B,ANKRD36B
poultney_13_ASD_discovery_cases-case98HI0098B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PDCL3
poultney_13_ASD_discovery_cases-case99HI1043A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PDCL3
prasad_12_ASD_discovery_cases-case47173L
qPCR
Unknown
Unknown
Unknown
MRPL30,LYG2,LIPT1,AFF3,MITD1,TXNDC9,TSGA10,C2orf15,REV1,EIF5B,LYG1
prasad_12_ASD_discovery_cases-case86605L
Unknown
Unknown
Unknown
TSGA10,C2orf15,MRPL30,MITD1,LIPT1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseDR08-020a1
Not tested by qPCR
Unknown
Unknown
Unknown
ANKRD36
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-125
qPCR
Maternal
Unknown
Unknown
ATP5F1BP1,VWA3B
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-375
Not tested by qPCR
Unknown
Unknown
Unknown
LYG2,LYG1
sanders_11_ASD_discovery_cases-11004.p1
Paternal
Simplex (quad-proband matched)
Segregated
ANKRD36
sanders_11_ASD_discovery_cases-11111.p1
Unknown
Simplex (trio)
NA
ANKRD36
sanders_11_ASD_discovery_cases-11134.p1
Maternal
Simplex (trio)
NA
C2orf15,LIPT1,MITD1,MRPL30,TSGA10
sanders_11_ASD_discovery_cases-11252.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RN7SL313P,FAHD2B,ANKRD36
sanders_11_ASD_discovery_cases-11258.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ANKRD36
sanders_11_ASD_discovery_cases-11378.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ANKRD36
sanders_11_ASD_discovery_cases-11484.p1
Maternal
Simplex (quad-proband matched)
Segregated
UBTFL6,COX5B,ACTR1B,ANKRD36B
sanders_11_ASD_discovery_cases-11526.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ANKRD36
sanders_11_ASD_discovery_cases-11657.p1
Both parents
Simplex (quad-proband matched)
Segregated
LINC01104
sanders_11_ASD_discovery_cases-11679.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11765.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LYG2,LYG1
sanders_11_ASD_discovery_cases-11917.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IGKV1OR2-9,IGKV2OR2-10,IGKV2OR2-7D,IGKV3OR2-5,IGKV1OR2-6,IGKV2OR2-7,IGKV2OR2-8,IGKV1OR2-11,ANKRD36,ANKRD36B
sanders_11_ASD_discovery_cases-11981.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU7-96P,TMEM131
sanders_11_ASD_discovery_cases-12158.p1
Maternal
Simplex (trio)
NA
ANKRD36
sanders_11_ASD_discovery_cases-12785.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GPAT2P2,RN7SL313P,IGKV1OR2-9,IGKV2OR2-10,IGKV2OR2-7D,IGKV3OR2-5,IGKV1OR2-6,IGKV2OR2-7,IGKV2OR2-8,IGKV1OR2-11,FAHD2B,ANKRD36,ANKRD36B
sanders_11_ASD_discovery_cases-12828.p1
Maternal
Simplex (trio)
NA
IGKV2OR2-1,IGKV2OR2-2,IGKV1OR2-3,GPAT2P2,RN7SL313P,FAHD2B,ANKRD36
sanders_11_ASD_discovery_cases-12853.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LYG2
sanders_11_ASD_discovery_cases-13152.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
IGKV3OR2-5,IGKV1OR2-6
soueid_16_ASD_discovery_cases-caseSAI36
Paternal
IGKV1OR2-9,IGKV2OR2-10,IGKV2OR2-7D,IGKV3OR2-5,IGKV1OR2-6,IGKV2OR2-7,IGKV2OR2-8,IGKV1OR2-11
yin_16_ASD_discovery_cases-case74
Unknown
Unknown
Unknown
MGAT4A
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlREACH000340
SNP VCF
De novo
NEURL3,ARID5A
brandler_18_ASD_discovery_controls-controlSSC05183
SNP VCF
De novo
EIF5B
engchuan_15_ASD_discovery_controls-control110036015501_
Unknown
RN7SL313P,IGKV1OR2-9,IGKV2OR2-10,IGKV2OR2-7D,IGKV3OR2-5,IGKV1OR2-6,IGKV2OR2-7,IGKV2OR2-8,IGKV1OR2-11,FAHD2B,ANKRD36,ANKRD36B
engchuan_15_ASD_discovery_controls-controlB140638_1007853950
Unknown
GPAT2P2,RN7SL313P,IGKV1OR2-9,IGKV2OR2-10,IGKV2OR2-7D,IGKV3OR2-5,IGKV1OR2-6,IGKV2OR2-7,IGKV2OR2-8,IGKV1OR2-11,FAHD2B,ANKRD36
engchuan_15_ASD_discovery_controls-controlB253888_1007853986
Unknown
UBTFL6,COX5B,ACTR1B,ANKRD36B
engchuan_15_ASD_discovery_controls-controlB285779_1007874679
Unknown
IGKV1OR2-3,GPAT2P2,RN7SL313P,FAHD2B,ANKRD36
engchuan_15_ASD_discovery_controls-controlB347545_0067942603
Unknown
IGKV1OR2-3,GPAT2P2,RN7SL313P,FAHD2B,ANKRD36
engchuan_15_ASD_discovery_controls-controlB524961_1007872292
Unknown
IGKV1OR2-3,GPAT2P2,RN7SL313P,IGKV1OR2-9,IGKV2OR2-10,IGKV2OR2-7D,IGKV3OR2-5,IGKV1OR2-6,IGKV2OR2-7,IGKV2OR2-8,IGKV1OR2-11,FAHD2B,ANKRD36,ANKRD36B
engchuan_15_ASD_discovery_controls-controlB536568_1007854032
Unknown
GPAT2P2,RN7SL313P,IGKV1OR2-9,IGKV2OR2-10,IGKV2OR2-7D,IGKV3OR2-5,IGKV1OR2-6,IGKV2OR2-7,IGKV2OR2-8,IGKV1OR2-11,FAHD2B,ANKRD36
engchuan_15_ASD_discovery_controls-controlB613109_1007875803
Unknown
AFF3
engchuan_15_ASD_discovery_controls-controlB675310_1007874657
Unknown
LYG2,LYG1
engchuan_15_ASD_discovery_controls-controlB747096_1007854180
Unknown
LYG2,LYG1
engchuan_15_ASD_discovery_controls-controlB757128_1007874832
Unknown
ATP5F1BP1,CNGA3,TMEM131,VWA3B,INPP4A
engchuan_15_ASD_discovery_controls-controlB809518_0057061032
Unknown
RN7SL313P,IGKV1OR2-9,IGKV2OR2-10,IGKV2OR2-7D,IGKV3OR2-5,IGKV1OR2-6,IGKV2OR2-7,IGKV2OR2-8,IGKV1OR2-11,FAHD2B,ANKRD36
engchuan_15_ASD_discovery_controls-controlHABC_900201_900201
Unknown
UBTFL6,COX5B,ACTR1B,ANKRD36B
engchuan_15_ASD_discovery_controls-controlHABC_900250_900250
Unknown
ANKRD36
engchuan_15_ASD_discovery_controls-controlHABC_900943_900943
Unknown
RN7SL313P,IGKV1OR2-9,IGKV2OR2-10,IGKV2OR2-7D,IGKV3OR2-5,IGKV1OR2-6,IGKV2OR2-7,IGKV2OR2-8,IGKV1OR2-11,FAHD2B,ANKRD36
engchuan_15_ASD_discovery_controls-controlHABC_901132_901132
Unknown
GPAT2P2,RN7SL313P,IGKV1OR2-9,IGKV2OR2-10,IGKV2OR2-7D,IGKV3OR2-5,IGKV1OR2-6,IGKV2OR2-7,IGKV2OR2-8,IGKV1OR2-11,FAHD2B,ANKRD36
engchuan_15_ASD_discovery_controls-controlHABC_901140_901140
Unknown
GPAT2P2,RN7SL313P,IGKV1OR2-9,IGKV2OR2-10,IGKV2OR2-7D,IGKV3OR2-5,IGKV1OR2-6,IGKV2OR2-7,IGKV2OR2-8,IGKV1OR2-11,FAHD2B,ANKRD36
engchuan_15_ASD_discovery_controls-controlHABC_901223_901223
Unknown
LYG2,LYG1
engchuan_15_ASD_discovery_controls-controlHABC_901266_901266
Unknown
RN7SL313P,FAHD2B,ANKRD36
girirajan_13b_ASD_discovery_controls-10208109404
Unknown
RN7SL210P,FAHD2CP,GPAT2P1,GPAT2,LINC00342,ANKRD36C
girirajan_13b_ASD_discovery_controls-2105102564
Unknown
CNNM4,LMAN2L
krumm_13_ASD_discovery_controls-control11484.s1
aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
COX5B,ACTR1B
krumm_13_ASD_discovery_controls-control13166.s1
Paternal
Simplex
VWA3B
krumm_13_ASD_discovery_controls-control13507.s1
Paternal
Simplex
UBTFL6,COX5B,ACTR1B,ANKRD36B
krumm_13_ASD_discovery_controls-control13508.s1
Maternal
Simplex
LYG2,LYG1
krumm_15_ASD_discovery_controls-control11765.s1
Illumina 1MDuo
Paternal
LYG2,LYG1
krumm_15_ASD_discovery_controls-control12091.s1
Illumina 1MDuo
Maternal
UBTFL6,COX5B,ACTR1B,ANKRD36B
krumm_15_ASD_discovery_controls-control12853.s1
Illumina 1MDuo
Maternal
LYG2,LYG1
krumm_15_ASD_discovery_controls-control13508.s1
1M-Duov3
Maternal
LYG2,LYG1
krumm_15_ASD_discovery_controls-control13531.s1
1M-Duov3
Paternal
UBTFL6,COX5B,ACTR1B,ANKRD36B
levy_11_ASD_discovery_controls-11765.s1
Paternal
Simplex
NA
LYG2,LYG1
poultney_13_ASD_discovery_controls-control04C28851A
Unknown
ANKRD36B
poultney_13_ASD_discovery_controls-control04C31069A
Unknown
RNU7-96P,ATP5F1BP1,TMEM131,VWA3B
poultney_13_ASD_discovery_controls-control04C32509B
Unknown
RN7SL313P,FAHD2B,ANKRD36
poultney_13_ASD_discovery_controls-control04C37424A
Unknown
RN7SL313P,FAHD2B,ANKRD36
poultney_13_ASD_discovery_controls-control05C38812A
Unknown
VWA3B
poultney_13_ASD_discovery_controls-control05C44633
Unknown
UBTFL6,COX5B,ACTR1B,ANKRD36B
sanders_11_ASD_discovery_controls-11032.s1
Unknown
Simplex (quad)
NA
ANKRD36
sanders_11_ASD_discovery_controls-11073.s1
Paternal
Simplex (quad)
NA
ANKRD36
sanders_11_ASD_discovery_controls-11124.s1
Paternal
Simplex (quad)
NA
FAHD2CP,GPAT2
sanders_11_ASD_discovery_controls-11252.s1
Maternal
Simplex (quad)
NA
RN7SL313P,IGKV1OR2-9,IGKV2OR2-10,IGKV2OR2-7D,IGKV3OR2-5,IGKV1OR2-6,IGKV2OR2-7,IGKV2OR2-8,IGKV1OR2-11,FAHD2B,ANKRD36,ANKRD36B
sanders_11_ASD_discovery_controls-11330.s1
Unknown
Simplex (quad)
NA
GPAT2P2,RN7SL313P,FAHD2B,ANKRD36
sanders_11_ASD_discovery_controls-11512.s1
Unknown
Simplex (quad)
NA
ANKRD36
sanders_11_ASD_discovery_controls-11679.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11765.s1
Paternal
Simplex (quad)
NA
LYG2,LYG1
sanders_11_ASD_discovery_controls-11917.s1
Maternal
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-11948.s1
Paternal
Simplex (quad)
NA
ANKRD36
sanders_11_ASD_discovery_controls-11990.s1
Both parents
Simplex (quad)
NA
ANKRD36
sanders_11_ASD_discovery_controls-12091.s1
Maternal
Simplex (quad)
NA
UBTFL6,COX5B,ACTR1B,ANKRD36B
sanders_11_ASD_discovery_controls-12701.s1
Unknown
Simplex (quad)
NA
RN7SL313P,FAHD2B,ANKRD36
sanders_11_ASD_discovery_controls-12851.s1
Maternal
Simplex (quad)
NA
IGKV1OR2-9,IGKV2OR2-10,IGKV2OR2-7D,IGKV3OR2-5,IGKV1OR2-6,IGKV2OR2-7,IGKV2OR2-8,IGKV1OR2-11,ANKRD36,ANKRD36B
sanders_11_ASD_discovery_controls-12851.s1
Maternal
Simplex (quad)
NA
ADRA2B,DUSP2,ITPRIPL1,MIR3127,ASTL,STARD7-AS1,TMEM127,CIAO1,SNRNP200,NEURL3,ARID5A,FER1L5,CNNM4,CNNM3-DT,CNNM3,ANKRD23,ANKRD39,FAM178B,STARD7,NCAPH,KANSL3,LMAN2L,SEMA4C
sanders_11_ASD_discovery_controls-12853.s1
Maternal
Simplex (quad)
NA
LYG2,LYG1
sanders_11_ASD_discovery_controls-13166.s1
Paternal
Simplex (quad)
NA
VWA3B
soueid_16_ASD_discovery_controls-control7
IGKV1OR2-9,IGKV2OR2-10,IGKV2OR2-7D,IGKV3OR2-5,IGKV1OR2-6,IGKV2OR2-7,IGKV2OR2-8,IGKV1OR2-11
No Animal Model Data Available