22q13.1CNV Type: Deletion-Duplication
Largest CNV size: 437225 bp
Statistics Box:
Number of Reports: 27
Number of Reports: 27
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
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.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
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.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Deletion
A large data resource of genomic copy number variation across neurodevelopmental disorders
Duplication
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism.
Deletion
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
Deletion
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
26373
1
1
2
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
302000
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
164725
3
1
4
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
348528
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
499681
1
3
4
granadillo_20_ASD/ADHD/DD/ID_discovery_cases
Individuals from 17 unrelated families presenting with variants affecting the TNRC6B gene
17
All 17 cases presented with developmental delay/intellectual disability; 11 cases were diagnosed with ADHD, and 8 cases were diagnosed with autism spectrum disorder
Mean age, 10.37 4.3 years
70.59% Male
66232
2
0
2
gregory_09_ASD_discovery_cases
Probands from multiplex autism families
119
Idiopathic autism, minimum IQ equivalent of 35 or Vineland Adaptive Behavior Scale age equivalent of 18 months
78.15% Male
437225
1
0
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
1127101
1
0
1
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
18284
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
1164885
3
1
4
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
240705
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
140375
1
7
8
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
275628
1
1
2
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
153000
1
0
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
30000
1
0
1
newbury_12_ASD/CAS_discovery_cases
Second-born child of healthy, non-consanguineous parents with no family history of speech delay, autistic disorders, and mental retardation
1
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS)
14 yrs.
Male
91153
0
1
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
174507
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
46582
1
0
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)
56926
1
2
3
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
33117
1
1
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
268454
13
6
19
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
26327
2
0
2
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
17997
1
0
1
wang_18_TS_discovery_cases
Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
789
Probands diagnosed with Tourette syndrome
N/A
80.57% Male
146864
1
0
1
xu_08_WAGR/ASD/DD/ID_discovery_cases
Patients with WAGR syndrome and de novo deletions in the 11p14-p12 region previously detected by FISH
31
All 31 patients diagnosed with WAGR syndrome; neurodevelopmental comorbidities within this cohort include intellectual disability, developmental delay, autism, ADHD, seizures, anxiety, obsessive-compulsive behaviors, and speech delay/speech disorder
Range, 3-46 yrs.
45.16% Male
125200
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
31144
0
1
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
116034
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_controls
Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
584
Control (unaffected siblings from simplex quad families)
N/A
N/A
384
1
0
1
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
46581
4
0
4
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
348528
0
0
0
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
0
0
0
0
gregory_09_ASD_discovery_controls
Samples from 27 sex-mismatched hybridizations
54
Controls
50% Male
437225
0
0
0
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
7659
1
1
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
18970
2
3
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
61922
1
0
1
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
61923
1
0
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
175062
0
2
2
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)
17890
1
0
1
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)
33117
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.
173337
10
5
15
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
31144
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Solid phase hybridization (Illumina 1M SNP), aCGH (Agilent SurePrint G3)
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_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
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)
granadillo_20_ASD/ADHD/DD/ID_discovery_cases
WES, aCGH
IDT xGen Exome Research Panel v.1.0, Agilent 180K Human Genome CGH
qPCR
gregory_09_ASD_discovery_cases
aCGH
BACs aCGH
BioDiscovery RSA
Bluefuse, Nexus
aCGH
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
FISH
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)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
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
newbury_12_ASD/CAS_discovery_cases
European (Caucasian)
aCGH
Agilent 244K
Agilent Feature Extraction v8.5, Agilent CGH Analytics v3.4
None
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
qPCR
shen_10b_ASD_discovery_cases
Chinese
aCGH
Agilent 244K
DNA Analytics
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
wang_18_TS_discovery_cases
N/A
WES
Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
CoNIFER
None
xu_08_WAGR/ASD/DD/ID_discovery_cases
N/A
aCGH
Agilent 4x44K, custom Agilent array
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_controls
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
girirajan_13a_ASD_discovery_controls1
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_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
gregory_09_ASD_discovery_controls
aCGH
BACs aCGH
BioDiscovery RSA
Bluefuse, Nexus
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
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
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
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
celestino-soper_11_ASD_discovery_cases-11063
NA
M
ASD
NA
NA
38822233
38823107
875
GRCh38
Duplication
No
celestino-soper_11_ASD_discovery_cases-11550
NA
M
ASD
NA
NA
38963107
38989480
26374
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_299790
N/A
M
Developmental delay/intellectual disability
CNV locus reported as 22q13.2 in the report
39743755
40045957
302203
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14063_1070
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
39042654
39207379
164726
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3099_8
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38959104
38996475
37372
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4456_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38959104
39014406
55303
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5523_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38967825
39014406
46582
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si126
6
M
Autism
ADOS score: 6. Vineland composite score: 65.
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 78; Non-verbal IQ, 85.
40064514
40413042
348529
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-11483.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
37614047
37974047
360001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-12224.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
40047691
40422307
374617
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-14440.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
37504614
38004295
499682
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-AU3068301
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
37551707
37604305
52599
GRCh38
Duplication
Yes
granadillo_20_ASD/ADHD/DD/ID_discovery_cases-case13
14 yrs.
M
ASD, ADHD, DD, ID
Developmental milestones: developmental delay/intellectual disability, fine motor delay, speech delay. Motor and musculoskeletal evaluation: hypotonia, broad palms, tibial malformation. Behavioral/psychiatric evaluation: autism, ADHD, sleep latency. Additional medical history: cryptorchidism. Growth parameters: increased body weight (> +2 SD). Family history: patient of Caucasian/Hispanic ancestry; the patient's mother presented with learning disability, ADHD, type 2 diabetes mellitus, scoliosis, and migraine, while the patient's father presented with social differences, compulsive behavior, and anxiety.
Developmental delay/intellectual disability
40246014
40301334
55321
GRCh38
Deletion
No
granadillo_20_ASD/ADHD/DD/ID_discovery_cases-case15
11 yrs.
F
DD, ID, ADHD
Birth/neonatal history: small for gestational age (<3rd %ile), birth length less than 3rd percentile. Developmental milestones: developmental delay/intellectual disability, gross motor delay, delayed ability to walk (16 months), fine motor delay, speech delay. Motor and musculoskeletal evaluation: joint hypermobility. Behavioral/psychiatric evaluation: ADHD, anger with tremor. Additional medical history: bilateral inguinal hernia. Dysmorphic features: round face, anteverted nares. Family history: Western European ethnicity; family history was negative; deletion was not observed in the patient's mother (father not available for testing). Patient reported in DECIPHER (DECIPHER ID 346766)
Developmental delay/intellectual disability
40225327
40291558
66232
GRCh38
Deletion
Yes
gregory_09_ASD_discovery_cases-200510671
NA
ASD
NA
NA
38014034
38451260
437227
GRCh38
Deletion
Yes
han_22_ASD/DD/ID_discovery_cases-case16D2217
5 mos. 8 days
F
Developmental delay
37429896
38556996
1127101
GRCh38
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case23
4 yrs.
M
Developmental delay/intellectual disability
Facial dysmorphisms, high-arched palate, congenital dislocation of the hip. Karyotype: 1phqh.
Developmental delay/intellectual disability
37607870
37626154
18285
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001683
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
37721777
38886664
1164888
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004443
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
37994092
38066784
72693
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004891
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
38951259
39371142
419884
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005200
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
38696778
38898386
201609
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12224.p1
N/A
M
ASD
ASD proband from SSC quad family 12224. SRS score of 89.
Full-scale IQ (FSIQ) score of 80.
40125817
40366522
240706
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11178.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
39665497
39670232
4736
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11617.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
39399802
39421971
22170
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11947.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
40322853
40463228
140376
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12224.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
40125817
40366522
240706
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12356.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
37931798
37947463
15666
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12363.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
37937079
37947463
10385
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13783.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
37231230
37244183
12954
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13801.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
37937079
37947463
10385
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11947.p1
NA
M
ASD
NA
NA
40324312
40499373
175062
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12224.p1
NA
M
ASD
NA
NA
40099432
40375059
275628
GRCh38
Deletion
Yes
napoli_17_ASD_discovery_cases-case27
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
38864289
39016935
152647
GRCh38
Deletion
Yes
nava_13_ASD_discovery_cases-Fam944Proband10738
N/A
M
ASD
Additional clinical profile info N/A
ID
38959104
38989505
30402
GRCh38
Deletion
No
newbury_12_ASD/CAS_discovery_cases-case1
14 yrs.
M
PDD-NOS and CAS
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS). Developmental milestones: normal early development until age of 1.5 years (evidence of social withdrawal). Language and communication evaluation: assessment with Vineland Adaptive Behavior Scale (VABS) showed remarkable impairment in langauge and communication; at age of 14 years, case scored at an age equivalent of 3 years and 3 months in the communication domain, with major impairment in expressive subdomain. Behavioral/psychiatric evaluation: displayed stereotypic movements and behavioral disturbances with self-aggressive episodes. Vision and hearing evaluation: normal. Dysmorphic features: heavy eyebrows with mild synophris, down-slanting palpebral fissures, hypertelorism, short philtrum, carp shaped mouth, full lips. Growth parameters: normal height & weight, macrocephaly. Family history: second-born child of unrelated and healthy parents; parents were clinically normal with no family history of speech delay, autistic disorders or mental retardation.
38898327
38989480
91154
GRCh38
Duplication
No
o'roak_12_ASD_discovery_cases-case11947.p1
NA
M
ASD/Autism
Case also identified with de novo MDM2 missense/nonsense mutation. No additional clinical info available.
Low IQ. Non verbal IQ, 33
40322853
40497360
174508
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5523_3
NA
F
ASD
NA
NA
38967825
39014406
46582
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case01HI2130A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU079905; NDAR ID NDAR_INVTL336MH0)
37937744
37951524
13781
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3730A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1333302; NDAR ID NDAR_INVXN619JT9)
38964611
39021536
56926
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case05HI3777A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1394302; NDAR ID NDAR_INVMY508FTQ)
37937744
37947465
9722
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case142068L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
38775159
38808275
33117
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60536L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
36667680
36673173
5494
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11052.p1
5.5
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 97; verbal IQ, 90
39035093
39049549
14457
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11216.p1
4.7
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 97; verbal IQ, 57
37352354
37353691
1338
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11249.p1
5.6
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ 74
38900499
39137365
236867
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11289.p1
6
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 98; verbal IQ, 62
39031931
39049549
17619
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11363.p1
5.9
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 78; verbal IQ 77
37352354
37353691
1338
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11376.p1
7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 89; verbal IQ, 97
39031931
39049549
17619
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11429.p1
11.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 102
39031931
39049549
17619
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11432.p1
6.5
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 117; verbal IQ, 111
37352354
37353691
1338
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11499.p1
7
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 139; verbal IQ, 108
37247524
37252642
5119
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11569.p1
9.1
F
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 45
37247524
37250252
2729
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11617.p1
15.3
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 27
39393081
39424880
31800
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11653.p1
4.5
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 44; verbal IQ, 28
37352354
37353691
1338
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11716.p1
16.2
M
Autism
NA
Full-scale IQ, 48.88; non-verbal IQ, 78; verbal IQ, 20
37352354
37353691
1338
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11947.p1
13.1
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 28
40324023
40497360
173338
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11959.p1
7.9
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 79; verbal IQ, 49
39047686
39047691
6
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12051.p1
6.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 66; verbal IQ, 63
40504073
40507417
3345
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12102.p1
5.1
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
40032429
40081426
48998
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12224.p1
4.3
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 78
40100652
40369106
268455
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-12703.p1
12.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 58; verbal IQ, 61
38885631
38891531
5901
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
37689058
37715385
26327
Unknown
Deletion
No
shen_10b_ASD_discovery_cases-caseIII:1
12 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
Mental retardation. WISC IQ score of 46.
37689058
37715385
26327
Unknown
Deletion
No
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
38967825
38985821
17997
GRCh38
Deletion
No
wang_18_TS_discovery_cases-case77355072
N/A
N/A
Tourette syndrome
Tourette syndrome proband from phase 1 cohort; no additional clinical information available
38871251
39018114
146864
GRCh38
Deletion
No
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF24a
16 yrs.
F
WAGR syndrome and ID
Obsessive-compulsive
Intellectual disability
38864289
38989480
125192
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case627
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
39003295
39034438
31144
GRCh38
Duplication
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case10-0013-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
39604545
39720578
116034
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_replication_controls-controlSSC09807
N/A
M
control
Control from SSC_phase2 cohort
38698166
38698549
384
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB995629_1007855005
N/A
N/A
Control
No previous psychiatric history
38967825
39014406
46582
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900037_900037
N/A
N/A
Control
No previous psychiatric history
38959104
38996475
37372
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900450_900450
N/A
N/A
Control
No previous psychiatric history
38959104
38996475
37372
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900999_900999
N/A
N/A
Control
No previous psychiatric history
38959104
38996291
37188
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control12937.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12937. SRS score of 46.
40358863
40366522
7660
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13992.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13992. SRS score of 45.
38081888
38087264
5377
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control12056.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
38134987
38145653
10667
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12356.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
37932552
37951522
18971
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12669.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
38057780
38067789
10010
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12937.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
40358863
40366522
7660
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13927.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
37937079
37947463
10385
GRCh38
Duplication
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON1210
36 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
40097876
40159797
61922
GRCh38
Deletion
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1210
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
40097875
40159797
61923
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11596.s1
NA
M
Control
NA
NA
37279848
37337154
57307
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11947.s1
NA
M
Control
NA
NA
40324312
40499373
175062
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C29561A
N/A
F
Control
NIMH Control (NIMH ID 61787)
39031694
39049583
17890
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11002.s1
10.4
M
Control (matched sibling)
NA
NA
38893797
38900499
6703
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11010.s1
7.7
M
Control (matched sibling)
NA
NA
38893797
38900499
6703
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11052.s1
7.9
M
Control (matched sibling)
NA
NA
39035093
39049549
14457
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11067.s1
16.7
F
Control (matched sibling)
NA
NA
37352354
37353691
1338
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11117.s1
7.1
F
Control (matched sibling)
NA
NA
37352354
37353691
1338
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11414.s1
14.8
F
Control (matched sibling)
NA
NA
37249190
37250252
1063
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11432.s1
8.1
F
Control (matched sibling)
NA
NA
37352354
37353691
1338
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11947.s1
14.5
M
Control (matched sibling)
NA
NA
40324023
40497360
173338
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11959.s1
9.7
F
Control (matched sibling)
NA
NA
39047686
39047691
6
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12056.s1
7.5
M
Control (matched sibling)
NA
NA
38132951
38148291
15341
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12335.s1
4.7
F
Control (matched sibling)
NA
NA
37249190
37251532
2343
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12347.s1
7.3
F
Control (matched sibling)
NA
NA
37566153
37568898
2746
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12669.s1
13.2
M
Control (matched sibling)
NA
NA
38051437
38067961
16525
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12703.s1
15.3
F
Control (matched sibling)
NA
NA
38885631
38891531
5901
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12937.s1
18.9
M
Control (matched sibling)
NA
NA
40357230
40375280
18051
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11063
Unknown
Simplex
NA
NPTXR
celestino-soper_11_ASD_discovery_cases-11550
Solid phase hybridization (Illumina 1M SNP), aCGH (Agilent SurePrint G3)
Inherited
Simplex
NA
APOBEC3B,APOBEC3A
digregorio_17_DD/ID_discovery_cases-DECIPHER_299790
De novo
RN7SKP210,UQCRFS1P1,GRAP2,FAM83F,TNRC6B,ENTHD1
engchuan_15_ASD_discovery_cases-case14063_1070
Unknown
APOBEC3G,APOBEC3H,COX5BP7,FUNDC2P4,APOBEC3F,CBX7
engchuan_15_ASD_discovery_cases-case3099_8
Unknown
APOBEC3B,APOBEC3A,APOBEC3B-AS1
engchuan_15_ASD_discovery_cases-case4456_1
Unknown
APOBEC3B,APOBEC3C,APOBEC3A,APOBEC3B-AS1
engchuan_15_ASD_discovery_cases-case5523_3
Unknown
APOBEC3B,APOBEC3C,APOBEC3A,APOBEC3B-AS1
girirajan_11_ASD_discovery_cases-Si126
De novo
Simplex
RPL7P52,SGSM3,TNRC6B,ADSL,MRTFA
girirajan_13a_ASD_discovery_cases-11483.p1
Unknown
Simplex
Unknown
RN7SL385P,LGALS1,H1F0,GALR3,MIR658,MIR659,RNU6-900P,MIR6820,SH3BP1,PDXP,NOL12,GCAT,ANKRD54,MICALL1,C22orf23,SOX10,GGA1,EIF3L,POLR2F,TRIOBP
girirajan_13a_ASD_discovery_cases-12224.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
RPL7P52,SGSM3,TNRC6B,ADSL,MRTFA
girirajan_13a_ASD_discovery_cases-14440.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
LGALS2,RN7SL385P,LGALS1,H1F0,GALR3,MIR658,MIR659,RNU6-900P,MIR6820,MIR4534,CARD10,CDC42EP1,SH3BP1,PDXP,NOL12,GCAT,ANKRD54,MICALL1,C22orf23,SOX10,GGA1,EIF3L,POLR2F,TRIOBP
girirajan_13a_ASD_discovery_cases-AU3068301
aCGH (NimbleGen 135K array)
Paternal
Multiplex
Unknown
LGALS2,CDC42EP1
granadillo_20_ASD/ADHD/DD/ID_discovery_cases-case13
Maternal
Unknown
TNRC6B
granadillo_20_ASD/ADHD/DD/ID_discovery_cases-case15
qPCR
Unknown (not maternal)
Simplex
Unknown
TNRC6B
gregory_09_ASD_discovery_cases-200510671
aCGH dye swap
Unknown
NA
NA
SLC16A8,RN7SL704P,PICK1,BAIAP2L2,MAFF,CSNK1E,TPTEP2-CSNK1E,TPTEP2,KCNJ4,POLR2F,PLA2G6,TMEM184B
han_22_ASD/DD/ID_discovery_cases-case16D2217
Unknown
CSNK1E,CARD10,EIF3L,PDXP,NOL12,BAIAP2L2,C22orf23,MICALL1,ANKRD54,H1-0,TPTEP2,MIR658,MIR659,MFNG,LGALS2,KCNJ4,LGALS1,MIR4534,PDXP-DT,POLR2F,MIR6820,TPTEP2-CSNK1E,SOX10,RN7SL704P,RNU6-900P,RN7SL385P,GALR3,PLA2G6,PICK1,TRIOBP,CDC42EP1,DMC1,DDX17,KDELR3,MAFF,GGA1,GCAT,TMEM184B,SH3BP1,SLC16A8
iourov_12_ASD/ID/EP_discovery_cases-case23
FISH
Unknown
Unknown
Unknown
GGA1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001683
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
H1F0,GALR3,MIR658,MIR659,RNU6-900P,MIR6820,MIR4534,SLC16A8,RN7SL704P,RPS29P31,PRDX3P1,GCAT,ANKRD54,MICALL1,C22orf23,SOX10,PICK1,BAIAP2L2,MAFF,CSNK1E,TPTEP2-CSNK1E,TPTEP2,KCNJ4,KDELR3,DDX17,FAM227A,TOMM22,JOSD1,GTPBP1,SUN2,DNAL4,NPTXR,CBX6,EIF3L,POLR2F,PLA2G6,TMEM184B,DMC1,CBY1,TRIOBP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004443
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
PICK1,POLR2F
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004891
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
APOBEC3B,APOBEC3C,APOBEC3G,APOBEC3H,COX5BP7,FUNDC2P4,RPL3,SNORD83B,SNORD83A,SNORD43,APOBEC3A,APOBEC3B-AS1,APOBEC3D,APOBEC3F,CBX7,PDGFB,SYNGR1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005200
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
PRDX3P1,JOSD1,GTPBP1,SUN2,DNAL4,NPTXR,CBX6
krumm_13_ASD_discovery_cases-case12224.p1
Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
De novo
Simplex
Segregated
TNRC6B,ADSL
krumm_15_ASD_discovery_cases-case11178.p1
Illumina 1M
Paternal
Simplex
Segregated
CACNA1I
krumm_15_ASD_discovery_cases-case11617.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
TAB1
krumm_15_ASD_discovery_cases-case11947.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
SGSM3,TNRC6B,ADSL,MRTFA
krumm_15_ASD_discovery_cases-case12224.p1
Illumina 1MDuo
De novo
Simplex
Segregated
TNRC6B,ADSL
krumm_15_ASD_discovery_cases-case12356.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
MICALL1,C22orf23
krumm_15_ASD_discovery_cases-case12363.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MICALL1,C22orf23
krumm_15_ASD_discovery_cases-case13783.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
RAC2
krumm_15_ASD_discovery_cases-case13801.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
MICALL1,C22orf23
levy_11_ASD_discovery_cases-11947.p1
Paternal
Simplex
Not segregated
SGSM3,TNRC6B,ADSL,MRTFA
levy_11_ASD_discovery_cases-12224.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
RPL7P52,SGSM3,TNRC6B,ADSL
napoli_17_ASD_discovery_cases-case27
RT-PCR
Paternal
APOBEC3B,APOBEC3C,CBX6,APOBEC3A,APOBEC3B-AS1
nava_13_ASD_discovery_cases-Fam944Proband10738
Paternal
Simplex
Unknown
APOBEC3B,APOBEC3A
newbury_12_ASD/CAS_discovery_cases-case1
Unknown
Simplex
Unknown (common in DGV)
APOBEC3B,APOBEC3A
o'roak_12_ASD_discovery_cases-case11947.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
SGSM3,TNRC6B,ADSL,MRTFA
pinto_10_ASD_discovery_cases-case5523_3
Agilent1M
maternal
NA
NA
APOBEC3B,APOBEC3C,APOBEC3A,APOBEC3B-AS1
poultney_13_ASD_discovery_cases-case01HI2130A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MICALL1,C22orf23
poultney_13_ASD_discovery_cases-case05HI3730A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
APOBEC3B,APOBEC3C,APOBEC3A,APOBEC3B-AS1,APOBEC3D
poultney_13_ASD_discovery_cases-case05HI3777A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MICALL1,C22orf23
prasad_12_ASD_discovery_cases-case142068L
Unknown
Unknown
Unknown
TNRC6B
prasad_12_ASD_discovery_cases-case60536L
Unknown
Unknown
Unknown
MICALL1,C22orf23
sanders_11_ASD_discovery_cases-11052.p1
Paternal
Simplex (quad-proband matched)
Not segregated
APOBEC3F
sanders_11_ASD_discovery_cases-11216.p1
Maternal
Simplex (quad-proband matched)
Segregated
ELFN2
sanders_11_ASD_discovery_cases-11249.p1
Paternal
Simplex (trio)
NA
APOBEC3B,APOBEC3C,APOBEC3G,APOBEC3H,COX5BP7,APOBEC3A,APOBEC3B-AS1,APOBEC3D,APOBEC3F,CBX7
sanders_11_ASD_discovery_cases-11289.p1
Maternal
Simplex (quad-proband matched)
Not segregated
APOBEC3D,APOBEC3F
sanders_11_ASD_discovery_cases-11363.p1
Unknown
Simplex (trio)
NA
ELFN2
sanders_11_ASD_discovery_cases-11376.p1
Maternal
Simplex (quad-proband matched)
Segregated
APOBEC3D,APOBEC3F
sanders_11_ASD_discovery_cases-11429.p1
Paternal
Simplex (quad-proband matched)
Not segregated
APOBEC3D,APOBEC3F
sanders_11_ASD_discovery_cases-11432.p1
Both parents
Simplex (quad-proband matched)
Not segregated
ELFN2
sanders_11_ASD_discovery_cases-11499.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11569.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11617.p1
Paternal
Simplex (trio)
NA
TAB1
sanders_11_ASD_discovery_cases-11653.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ELFN2
sanders_11_ASD_discovery_cases-11716.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ELFN2
sanders_11_ASD_discovery_cases-11947.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SGSM3,TNRC6B,ADSL,MRTFA
sanders_11_ASD_discovery_cases-11959.p1
Paternal
Simplex (quad-proband matched)
Not segregated
APOBEC3F
sanders_11_ASD_discovery_cases-12051.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MRTFA
sanders_11_ASD_discovery_cases-12102.p1
Unknown
Simplex (trio)
NA
FAM83F,TNRC6B
sanders_11_ASD_discovery_cases-12224.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
RPL7P52,TNRC6B,ADSL
sanders_11_ASD_discovery_cases-12703.p1
Maternal
Simplex (quad-proband matched)
Not segregated
shen_10b_ASD_discovery_cases-caseII:5
Paternal
Simplex
Unknown
APOBEC3A,APOBEC3B
shen_10b_ASD_discovery_cases-caseIII:1
Paternal
Paternal
Simplex (ASD), Multiplex (language delay)
Not segregated
APOBEC3A,APOBEC3B
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Possibly segregated (present in affected sister, status in unaffected brother unknown)
APOBEC3B,APOBEC3A
wang_18_TS_discovery_cases-case77355072
CNV validation not attempted
De novo
APOBEC3B,APOBEC3C,CBX6,APOBEC3A,APOBEC3B-AS1
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF24a
Unknown
Unknown
APOBEC3B,CBX6,APOBEC3A
yin_16_ASD_discovery_cases-case627
Unknown
Unknown
Unknown
APOBEC3C,APOBEC3D
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case10-0013-003
RT-qPCR or WGS
Unknown
CACNA1I
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC09807
No validation step reported
Maternal
JOSD1
engchuan_15_ASD_discovery_controls-controlB995629_1007855005
Unknown
APOBEC3B,APOBEC3C,APOBEC3A,APOBEC3B-AS1
engchuan_15_ASD_discovery_controls-controlHABC_900037_900037
Unknown
APOBEC3B,APOBEC3A,APOBEC3B-AS1
engchuan_15_ASD_discovery_controls-controlHABC_900450_900450
Unknown
APOBEC3B,APOBEC3A,APOBEC3B-AS1
engchuan_15_ASD_discovery_controls-controlHABC_900999_900999
Unknown
APOBEC3B,APOBEC3A,APOBEC3B-AS1
krumm_13_ASD_discovery_controls-control12937.s1
Paternal
Simplex
ADSL
krumm_13_ASD_discovery_controls-control13992.s1
Paternal
Simplex
SLC16A8,BAIAP2L2
krumm_15_ASD_discovery_controls-control12056.s1
Illumina 1MDuo
Paternal
PLA2G6
krumm_15_ASD_discovery_controls-control12356.s1
Illumina 1MDuo
Paternal
MICALL1,C22orf23
krumm_15_ASD_discovery_controls-control12669.s1
Illumina 1MDuo
Paternal
PICK1
krumm_15_ASD_discovery_controls-control12937.s1
Illumina 1MDuo
Paternal
ADSL
krumm_15_ASD_discovery_controls-control13927.s1
Omni2.5-4v1
Paternal
MICALL1,C22orf23
kushima_18_ASD/SCZ_discovery_controls-controlCON1210
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
RPL7P52,TNRC6B
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1210
qRT-PCR
Unknown
RPL7P52,TNRC6B
levy_11_ASD_discovery_controls-11596.s1
Maternal
Simplex
NA
CYTH4
levy_11_ASD_discovery_controls-11947.s1
Paternal
Simplex
NA
SGSM3,TNRC6B,ADSL,MRTFA
poultney_13_ASD_discovery_controls-control04C29561A
Unknown
APOBEC3D,APOBEC3F
sanders_11_ASD_discovery_controls-11002.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11010.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11052.s1
Paternal
Simplex (quad)
NA
APOBEC3F
sanders_11_ASD_discovery_controls-11067.s1
Paternal
Simplex (quad)
NA
ELFN2
sanders_11_ASD_discovery_controls-11117.s1
Unknown
Simplex (quad)
NA
ELFN2
sanders_11_ASD_discovery_controls-11414.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11432.s1
Both parents
Simplex (quad)
NA
ELFN2
sanders_11_ASD_discovery_controls-11947.s1
Paternal
Simplex (quad)
NA
SGSM3,TNRC6B,ADSL,MRTFA
sanders_11_ASD_discovery_controls-11959.s1
Paternal
Simplex (quad)
NA
APOBEC3F
sanders_11_ASD_discovery_controls-12056.s1
Paternal
Simplex (quad)
NA
PLA2G6
sanders_11_ASD_discovery_controls-12335.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12347.s1
Unknown
Simplex (quad)
NA
CDC42EP1
sanders_11_ASD_discovery_controls-12669.s1
Paternal
Simplex (quad)
NA
PICK1
sanders_11_ASD_discovery_controls-12703.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12937.s1
Paternal
Simplex (quad)
NA
SGSM3,ADSL
No Animal Model Data Available