10q22.3CNV Type: Deletion-Duplication
Largest CNV size: 185572 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
High rate of disease-related copy number variations in childhood onset schizophrenia.
Deletion
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
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
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
ahn_13_SCZ_discovery_cases
Probands with childhood onset schizophrenia screened for 46 well-documented neurodevelopmental risk CNVs
126
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years); medical or neurological disorders, or IQ under 70, were exclusionary criteria.
N/A
N/A
173000
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
1297839
1
3
4
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
279049
1
1
2
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
27215
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
545000
4
1
5
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
286649
0
1
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
43022
0
3
3
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
319962
1
0
1
miclea_22_DD/ID_discovery_cases
Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.
189
Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.
Range, 1-18 yrs.
51.85% Male
18192
1
0
1
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
12921
0
3
3
saia_23_TS_discovery_cases
Patients with a clinical diagnosis of Tourette syndrome enrolled between April 2021 and April 2022 (Child and Adolescent Neurology and Psychiatry of the Medical and Experimental Department, Catania University).
93
Cases were diagnosed with Tourette syndrome (TS) according to DSM-5 criteria; symptoms of TS were evaluated with the Yale Global Tic Severity Rating Scale (YGTSS). Co-morbidities included intellectual disability, obsessive compulsive disorder (OCD), oppositional defiant disorder (ODD), ADHD, and ASD.
Mean age, 12.1 +/- 3.1 yrs.
76.3% Male
675407
0
1
1
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
185572
9
8
17
schmitz-abe_20_ASD_discovery_cases
ASD probands rom 187 families from the Homozygosity Mapping Collaborative of Autism (HMCA); 22% of families had more than one affected child, and 66% of families were consanguineous.
255
Diagnosis of autism or ASD made by a neurologist, child psychiatrist, or psychologist; DSM-IV-R criteria confirmed in all individuals with an Autism diagnosis
N/A
N/A
85701
2
0
2
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
12326
1
0
1
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
185572
0
1
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
149049
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
ahn_13_SCZ_discovery_controls
Full siblings of probands without diagnosis of neurodevelopmental disorder (19 full siblings from original cohort of 117 full siblings were excluded due to diagnoses of schizophrenia, autism, intellectual disability, or bipolar disorder)
98
Control
N/A
N/A
N/A
N/A
N/A
N/A
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
397993
3
2
5
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
384636
N/A
N/A
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
43022
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
289135
0
1
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)
12921
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.
394465
12
7
19
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
185572
N/A
N/A
N/A
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
149049
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
ahn_13_SCZ_discovery_cases
N/A
Solid phase hybridization
Illumina Human or HumanOmni Beadchips
PennCNV, QuantiSNP, GNOSIS
Illumina GenomeStudio, CNVision, Nexus copy number
array SNP, aCGH, qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
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)
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
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
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
miclea_22_DD/ID_discovery_cases
Romania
Solid phase hybridization
Illumina Infinium OmniExpress-24 BeadChip
NA
Illumina GenomeStudio v.2.0.
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
saia_23_TS_discovery_cases
Italy
aCGH
Agilent 8x60K
ADM-2
Agilent Feature Extraction v.11.5, Agilent Genomic Workbench v.7.0.4.0.
MLPA, RT-PCR
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
schmitz-abe_20_ASD_discovery_cases
Middle Eastern
Array SNP
Affymetrix 6.0, Affymetrix 500K
qPCR
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
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
ahn_13_SCZ_discovery_controls
N/A
Solid phase hybridization
Illumina Human or HumanOmni Beadchips
PennCNV, QuantiSNP, GNOSIS
Illumina GenomeStudio, CNVision, Nexus copy number
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
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
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
larson_17_ASD_discovery_controls
N/A
N/A
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
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
ahn_13_SCZ_discovery_cases-NSB_ID885
N/A
N/A
Schizophrenia
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
IQ 70
81415378
81588866
173000
NCBI36
Deletion
Yes
engchuan_15_ASD_discovery_cases-case3093_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
78306392
78491964
185573
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3168_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
79802281
80224808
422528
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4226_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
78861264
79839130
977867
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8474_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
79817858
80215057
397200
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1417301
Autism
79011740
79290788
279049
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1521302
Autism
77783012
77853867
70856
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case493-3
N/A
F
ASD
ASD; no other clinical information provided
N/A
76533231
76560446
27216
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-12969.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
80074867
80084376
9510
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13214.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
79830264
80210264
380001
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-13214.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
79825465
80210101
384637
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13582.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
80059679
80133862
74184
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-14053.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
77330236
77880236
550001
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004565
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
77791298
78077947
286650
GRCh38
Duplication
Yes
larson_17_ASD_discovery_cases-case69
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.
79222498
79265520
43023
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case70
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.
79222498
79265520
43023
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case71
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.
79222498
79265520
43023
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband3
15 yrs.
M
ASD and ID
Diagnosis of ASD (pervasive developmental disorder/PDD) at age of 4 years by child psychologist on basis of behavioral assessments. Birth/neonatal history: uncomplicated pregnancy; natural delivery. Developmental milestones: crawling at 7 months, walking at 15 months; developmental delay noticed by parents at age two, two months after serious encephalitic illness that required hospitalization; speech and language delay (did not talk until approximately 4 years of age). Behavioral/psychiatric evaluation: continued behavioral issues including anxiety, OCD, tics, and impulsive, sometimes aggressive behaviors; frequently talks to himself, trouble concentrating and sitting still. Epilepsy/seizures: cyclical seizures began at time of encephalitic illness and recurred until age of 6 years; subsequently seizure-free without anti-convulsant treatment. Other features: clinical metabolic testing for molybdenum cofactor (MoCo) deficiency performed (negative results) after detection of de novo 14q23.3/GPHN deletion. Dysmorphic features: N/A. Family history: N/A.
Intellectual disability
79513721
79801702
287982
GRCh38
Deletion
No
miclea_22_DD/ID_discovery_cases-case183
NA
NA
Developmental delay and intellectual disability
Global developmental delay, West syndrome, ataxia
Intellectual disability
77553970
77572161
18192
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case68388
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
77916018
77928938
12921
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case72057
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
77917670
77928938
11269
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-caseMM0234-5
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
77916018
77928938
12921
Unknown
Duplication
No
saia_23_TS_discovery_cases-case10
NA
NA
Tourette syndrome, OCD, and intellectual disability
Case diagnosed with Tourette syndrome (YGTSS score 9). Behavioral/psychiatric evaluation: obsessive compulsive disorder (OCD). Dysmorphic features: none.
Mild intellectual disability
76892204
77567610
675407
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11172.p1
15.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 60; verbal IQ, 70
79632855
79674069
41215
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11201.p1
8.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 78; verbal IQ, 44
79632855
79684140
51286
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11202.p1
11.8
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ 71
79801703
79839130
37428
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11208.p1
14.4
F
Autism
NA
Full-scale IQ, 141; non-verbal IQ, 128; verbal IQ, 149
80024137
80034407
10271
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11267.p1
13.2
F
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 79
81462715
81552017
89302
NCBI36
Deletion
No
sanders_11_ASD_discovery_cases-11328.p1
7.7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 81
79643206
79795946
152741
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11355.p1
8.8
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 73; verbal IQ, 67
79632855
79684140
51286
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11357.p1
9.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 112; verbal IQ, 91
79632855
79674069
41215
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11510.p1
8.3
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
78306392
78491964
185573
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11905.p1
11.2
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 71; verbal IQ, 34
76749627
76767030
17404
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11969.p1
14.3
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
79801703
79817858
16156
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12349.p1
4.9
M
ASD
NA
Full-scale IQ, 81; non-verbal IQ, 81; verbal IQ, 90
79702568
79795946
93379
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12472.p1
5.6
F
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ, 112
76758746
76767030
8285
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12624.p1
7.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 47; verbal IQ, 27
81478475
81504056
25581
NCBI36
Deletion
No
sanders_11_ASD_discovery_cases-12701.p1
6.7
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
79801703
79839130
37428
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12741.p1
7.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 87; verbal IQ, 60
81478475
81552017
73542
NCBI36
Deletion
No
sanders_11_ASD_discovery_cases-12937.p1
17.3
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
81478475
81588866
110391
NCBI36
Deletion
No
schmitz-abe_20_ASD_discovery_cases-caseAU-18301
N/A
F
ASD
Proband born to consanguineous parents of Middle Eastern descent from the HMCA cohort. Homozygous deletion segregated with ASD in this family.
79752498
79838198
85701
GRCh38
Deletion
Yes
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
Leiter-R IQ: 119 (92nd %ile)
81475459
81487784
12326
NCBI36
Deletion
No
walker_13_ASD_discovery_cases-case8-3093-004
N/A
M
ASD
N/A
N/A
78306392
78491964
185573
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case393
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
79689239
79838287
149049
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB215965_1007871668
N/A
N/A
Control
No previous psychiatric history
79814682
80212675
397994
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB546105_1007840953
N/A
N/A
Control
No previous psychiatric history
76622193
76698232
76040
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB772297_1007873646
N/A
N/A
Control
No previous psychiatric history
79881442
80244071
362630
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900286_900286
N/A
N/A
Control
No previous psychiatric history
79801703
79892510
90808
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900451_900451
N/A
N/A
Control
No previous psychiatric history
77553971
77614997
61027
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_controls2-control4
N/A
N/A
Control
N/A
N/A
79825465
80210101
384637
GRCh38
Unknown
No
levy_11_ASD_discovery_controls-12381.s1
NA
F
Control
NA
NA
79923728
80212862
289135
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11089.s1
9.3
M
Control (matched sibling)
NA
NA
79632855
79674069
41215
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11274.s1
9.1
M
Control (matched sibling)
NA
NA
79632855
79674069
41215
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11355.s1
5.4
F
Control (matched sibling)
NA
NA
80024137
80034407
10271
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11381.s1
7.4
M
Control (matched sibling)
NA
NA
76928394
76935709
7316
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11425.s1
5.5
F
Control (matched sibling)
NA
NA
76697830
76699453
1624
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11436.s1
6.5
F
Control (matched sibling)
NA
NA
79632855
79674069
41215
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11472.s1
10.6
F
Control (matched sibling)
NA
NA
76749627
76767030
17404
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11474.s1
19
M
Control (matched sibling)
NA
NA
81415378
81588866
173488
NCBI36
Deletion
No
sanders_11_ASD_discovery_controls-11538.s1
9.2
M
Control (matched sibling)
NA
NA
79801703
79839130
37428
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11653.s1
5
M
Control (matched sibling)
NA
NA
81478475
81504056
25581
NCBI36
Deletion
No
sanders_11_ASD_discovery_controls-11905.s1
8.6
F
Control (matched sibling)
NA
NA
76749627
76767030
17404
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11919.s1
6.7
M
Control (matched sibling)
NA
NA
80212630
80224808
12179
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12197.s1
5.8
F
Control (matched sibling)
NA
NA
79814682
79856234
41553
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12228.s1
8.8
F
Control (matched sibling)
NA
NA
76696103
76700313
4211
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12272.s1
9.8
F
Control (matched sibling)
NA
NA
81462715
81505620
42905
NCBI36
Deletion
No
sanders_11_ASD_discovery_controls-12381.s1
7.5
F
Control (matched sibling)
NA
NA
81294757
81407262
112505
NCBI36
Deletion
No
sanders_11_ASD_discovery_controls-12381.s1
7.5
F
Control (matched sibling)
NA
NA
79580247
79702568
122322
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12381.s1
7.5
F
Control (matched sibling)
NA
NA
79814682
80209147
394466
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12568.s1
15.7
F
Control (matched sibling)
NA
NA
79801703
79837228
35526
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
ahn_13_SCZ_discovery_cases-NSB_ID885
array SNP, aCGH, and/or qPCR
De novo
Unknown
Unknown
0 genes
engchuan_15_ASD_discovery_cases-case3093_4
Unknown
LINC00856
engchuan_15_ASD_discovery_cases-case3168_3
Unknown
NUTM2E,NPAP1P2,PGGT1BP2,ZNRF2P3,DPY19L2P5,C1DP3,C1DP2,C1DP4,RPL22P18,CTSLP6,BMS1P21,MBL1P,SFTPD-AS1,TMEM254-AS1,PLAC9,ANXA11,SFTPD,TMEM254,LINC00857,RPS12P2,NUTM2B-AS1
engchuan_15_ASD_discovery_cases-case4226_1
Unknown
TPRX1P1,EIF5AL1,SFTPA2,MBL3P,SFTPA3P,SFTPA1,BEND3P3,PPIF,RPS12P18,NUTM2B,ZMIZ1-AS1,ZMIZ1,ZCCHC24,NUTM2B-AS1
engchuan_15_ASD_discovery_cases-case8474_202
Unknown
NUTM2E,NPAP1P2,PGGT1BP2,ZNRF2P3,DPY19L2P5,C1DP3,C1DP2,C1DP4,RPL22P18,CTSLP6,BMS1P21,MBL1P,SFTPD-AS1,TMEM254-AS1,PLAC9,ANXA11,SFTPD,TMEM254,LINC00857,NUTM2B-AS1
gai_11_ASD_discovery_cases-AU1417301
Inherited
KCNMA1, DLG5
gai_11_ASD_discovery_cases-AU1521302
Inherited
C10orf11 (intronic)
gazzellone_14_ASD_discovery_cases-case493-3
Unknown
Unknown
Unknown
LRMDA
girirajan_13a_ASD_discovery_cases-12969.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
TMEM254-AS1,TMEM254
girirajan_13a_ASD_discovery_cases-13214.p1
Unknown
Simplex
Unknown
NUTM2E,NPAP1P2,PGGT1BP2,ZNRF2P3,DPY19L2P5,C1DP3,C1DP2,C1DP4,RPL22P18,CTSLP6,BMS1P21,MBL1P,SFTPD-AS1,TMEM254-AS1,PLAC9,ANXA11,SFTPD,TMEM254,LINC00857
girirajan_13a_ASD_discovery_cases-13214.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
NUTM2E,NPAP1P2,PGGT1BP2,ZNRF2P3,DPY19L2P5,C1DP3,C1DP2,C1DP4,RPL22P18,CTSLP6,BMS1P21,MBL1P,SFTPD-AS1,TMEM254-AS1,PLAC9,ANXA11,SFTPD,TMEM254,LINC00857,NUTM2B-AS1
girirajan_13a_ASD_discovery_cases-13582.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
RPL22P18,TMEM254-AS1,PLAC9,TMEM254
girirajan_13a_ASD_discovery_cases-14053.p1
Unknown
Simplex
Unknown
COX6CP15,RNA5SP321,RNU6-1266P,IMPDH1P5,KCNMA1-AS3,DLG5,KCNMA1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004565
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL284P,DLG5-AS1,H2AFZP5,GNAI2P2,RPS24,DLG5,POLR3A
larson_17_ASD_discovery_cases-case69
Unknown
Unknown
ZMIZ1
larson_17_ASD_discovery_cases-case70
Unknown
Unknown
ZMIZ1
larson_17_ASD_discovery_cases-case71
Unknown
Unknown
ZMIZ1
lionel_13_ASD/SCZ/EP_discovery_cases-proband3
Unknown
Simplex
Unknown
EIF5AL1,SFTPA2,MBL3P,SFTPA3P,SFTPA1,BEND3P3,RPS12P18,NUTM2B,NUTM2B-AS1
miclea_22_DD/ID_discovery_cases-case183
Unknown
KCNMA1
prasad_12_ASD_discovery_cases-case68388
Unknown
Unknown
Unknown
C10orf11
prasad_12_ASD_discovery_cases-case72057
Unknown
Unknown
Unknown
C10orf11
prasad_12_ASD_discovery_cases-caseMM0234-5
Unknown
Unknown
Unknown
C10orf11
saia_23_TS_discovery_cases-case10
MLPA, RT-PCR
Paternal
KCNMA1,KCNMA1-AS2,KCNMA1-AS1,KCNMA1-AS3,COX6CP15
sanders_11_ASD_discovery_cases-11172.p1
Unknown
Simplex (quad-proband matched)
Segregated
NUTM2B-AS1
sanders_11_ASD_discovery_cases-11201.p1
Unknown
Simplex (quad-proband matched)
Not segregated
BEND3P3,NUTM2B-AS1
sanders_11_ASD_discovery_cases-11202.p1
Unknown
Simplex (trio)
NA
NUTM2B-AS1
sanders_11_ASD_discovery_cases-11208.p1
Maternal
Simplex (quad-proband matched)
Not segregated
C1DP3,C1DP2
sanders_11_ASD_discovery_cases-11267.p1
Unknown
Simplex (quad-proband matched)
Segregated
0 genes
sanders_11_ASD_discovery_cases-11328.p1
Both parents
Simplex (quad-proband matched)
Segregated
BEND3P3,NUTM2B,NUTM2B-AS1
sanders_11_ASD_discovery_cases-11355.p1
Unknown
Simplex (quad-proband matched)
Not segregated
BEND3P3,NUTM2B-AS1
sanders_11_ASD_discovery_cases-11357.p1
Unknown
Simplex (quad-proband matched)
Not segregated
NUTM2B-AS1
sanders_11_ASD_discovery_cases-11510.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC00856
sanders_11_ASD_discovery_cases-11905.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11969.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NUTM2B-AS1
sanders_11_ASD_discovery_cases-12349.p1
Maternal
Simplex (trio)
NA
NUTM2B,NUTM2B-AS1
sanders_11_ASD_discovery_cases-12472.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12624.p1
Unknown
Simplex (quad-proband matched)
Not segregated
0 genes
sanders_11_ASD_discovery_cases-12701.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NUTM2B-AS1
sanders_11_ASD_discovery_cases-12741.p1
Unknown
Simplex (quad-proband matched)
Not segregated
0 genes
sanders_11_ASD_discovery_cases-12937.p1
Maternal
Simplex (quad-proband matched)
Not segregated
0 genes
schmitz-abe_20_ASD_discovery_cases-caseAU-18301
qPCR
Both parents
Simplex
Segregated
NUTM2B-AS1
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
0 genes
walker_13_ASD_discovery_cases-case8-3093-004
Unknown
Multiplex
Unknown
LINC00856
yin_16_ASD_discovery_cases-case393
Unknown
Unknown
Unknown
NUTM2B,NUTM2B-AS1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB215965_1007871668
Unknown
NUTM2E,NPAP1P2,PGGT1BP2,ZNRF2P3,DPY19L2P5,C1DP3,C1DP2,C1DP4,RPL22P18,CTSLP6,BMS1P21,MBL1P,SFTPD-AS1,TMEM254-AS1,PLAC9,ANXA11,SFTPD,TMEM254,LINC00857,NUTM2B-AS1
engchuan_15_ASD_discovery_controls-controlB546105_1007840953
Unknown
engchuan_15_ASD_discovery_controls-controlB772297_1007873646
Unknown
PGGT1BP2,ZNRF2P3,DPY19L2P5,C1DP3,C1DP2,C1DP4,RPL22P18,BMS1P21,MBL1P,SFTPD-AS1,TMEM254-AS1,PLAC9,ANXA11,SFTPD,TMEM254,LINC00857,RPS12P2
engchuan_15_ASD_discovery_controls-controlHABC_900286_900286
Unknown
NUTM2E,NPAP1P2,PGGT1BP2,CTSLP6,NUTM2B-AS1
engchuan_15_ASD_discovery_controls-controlHABC_900451_900451
Unknown
RNA5SP321,KCNMA1
girirajan_13a_ASD_discovery_controls2-control4
Unknown
NUTM2E,NPAP1P2,PGGT1BP2,ZNRF2P3,DPY19L2P5,C1DP3,C1DP2,C1DP4,RPL22P18,CTSLP6,BMS1P21,MBL1P,SFTPD-AS1,TMEM254-AS1,PLAC9,ANXA11,SFTPD,TMEM254,LINC00857,NUTM2B-AS1
levy_11_ASD_discovery_controls-12381.s1
Paternal
Simplex
NA
ZNRF2P3,DPY19L2P5,C1DP3,C1DP2,C1DP4,RPL22P18,BMS1P21,SFTPD-AS1,TMEM254-AS1,PLAC9,ANXA11,SFTPD,TMEM254,LINC00857
sanders_11_ASD_discovery_controls-11089.s1
Maternal
Simplex (quad)
NA
NUTM2B-AS1
sanders_11_ASD_discovery_controls-11274.s1
Unknown
Simplex (quad)
NA
NUTM2B-AS1
sanders_11_ASD_discovery_controls-11355.s1
Paternal
Simplex (quad)
NA
C1DP3,C1DP2
sanders_11_ASD_discovery_controls-11381.s1
Paternal
Simplex (quad)
NA
KCNMA1-AS1,KCNMA1
sanders_11_ASD_discovery_controls-11425.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11436.s1
Unknown
Simplex (quad)
NA
NUTM2B-AS1
sanders_11_ASD_discovery_controls-11472.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11474.s1
Maternal
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-11538.s1
Unknown
Simplex (quad)
NA
NUTM2B-AS1
sanders_11_ASD_discovery_controls-11653.s1
Unknown
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-11905.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11919.s1
Maternal
Simplex (quad)
NA
LINC00857,RPS12P2
sanders_11_ASD_discovery_controls-12197.s1
Maternal
Simplex (quad)
NA
NUTM2E,NUTM2B-AS1
sanders_11_ASD_discovery_controls-12228.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12272.s1
Unknown
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-12381.s1
Paternal
Simplex (quad)
NA
SFTPA1, SFTPA1B, SFTPA2, SFTPA2B
sanders_11_ASD_discovery_controls-12381.s1
Paternal
Simplex (quad)
NA
MBL3P,SFTPA3P,SFTPA1,BEND3P3,NUTM2B-AS1
sanders_11_ASD_discovery_controls-12381.s1
Paternal
Simplex (quad)
NA
NUTM2E,NPAP1P2,PGGT1BP2,ZNRF2P3,DPY19L2P5,C1DP3,C1DP2,C1DP4,RPL22P18,CTSLP6,BMS1P21,MBL1P,SFTPD-AS1,TMEM254-AS1,PLAC9,ANXA11,SFTPD,TMEM254,LINC00857,NUTM2B-AS1
sanders_11_ASD_discovery_controls-12568.s1
Maternal
Simplex (quad)
NA
NUTM2B-AS1
No Animal Model Data Available