9q22.31CNV Type: Deletion-Duplication
Largest CNV size: 850000 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Copy number variation characteristics in subpopulations of patients with 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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
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
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
67
1
0
1
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
850000
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
66273
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
46377
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
396068
1
3
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
970
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
33397
1
1
2
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
11072
5
0
5
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
7989
37
0
37
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
601000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
0
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
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
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
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)
13486
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)
11072
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.
10543
27
0
27
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
174321
2
0
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_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
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
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
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
brandler_18_ASD_discovery_cases-caseMT_12.3
N/A
M
ASD
Case from REACH cohort
93326875
93326942
68
GRCh38
Deletion
Yes
bremer_11_ASD_discovery_cases-case31
7
F
ASD
Non-syndromic ASD, familial case
MR (IQ<70)
92124006
92969122
845117
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case4399_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
92414994
92481267
66274
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-14039.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
92275736
92322113
46378
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002149
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
91935027
92331095
396069
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002150
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
91935027
92331095
396069
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003784
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
91870872
91952741
81870
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005106
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
91611565
91870931
259367
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12334.p1
N/A
M
ASD
ASD proband from SSC quad family 12334. SRS score of 61.
Full-scale IQ (FSIQ) score of 84.
92222519
92223489
971
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case12957.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
92314266
92324161
9896
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14039.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
92277862
92311259
33398
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case117525L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
93432583
93440062
7480
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case160789
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
93890354
93901425
11072
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60666L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
93432583
93440062
7480
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case60973L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
93432583
93440062
7480
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case88253
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
94716376
94727036
10661
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11000.p1
9.2
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 78; verbal IQ, 50
91634084
91636962
2879
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11050.p1
5.7
F
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 95; verbal IQ 104
91632358
91636962
4605
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11064.p1
8.1
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 129; verbal IQ, 86
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11079.p1
11.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 48; verbal IQ, 63
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11187.p1
7.8
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 115; verbal IQ, 108
91632358
91636962
4605
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11202.p1
11.8
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ 71
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11229.p1
9.4
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 68; verbal IQ, 56
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11275.p1
14.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 90
91632358
91636962
4605
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11367.p1
7.6
M
Aspergers
NA
Full-scale IQ, 115; non-verbal IQ, 119; verbal IQ, 119
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11439.p1
6.8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11455.p1
7.6
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 69
91633240
91636962
3723
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11498.p1
7.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 102; verbal IQ, 110
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11551.p1
15.5
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
91633777
91636962
3186
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
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11694.p1
8.8
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 89; verbal IQ, 116
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11812.p1
8.4
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 67; verbal IQ, 77
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11878.p1
9.5
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 94
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11964.p1
12.4
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 40; verbal IQ, 39
91633240
91636962
3723
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12020.p1
17.3
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 115; verbal IQ, 114
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12060.p1
8.5
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 115
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12071.p1
11.7
F
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 102; verbal IQ, 112
91481285
91484490
3206
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12119.p1
5.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12149.p1
5.3
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 103
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12247.p1
4.7
M
ASD
NA
Full-scale IQ, 109; non-verbal IQ, 111; verbal IQ, 104
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12306.p1
8.4
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 57; verbal IQ, 84
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12379.p1
7.1
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12418.p1
13.4
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 95; verbal IQ, 115
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12634.p1
4.2
F
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 75; verbal IQ, 63
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12650.p1
6.4
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 100; verbal IQ, 109
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12682.p1
9.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 92
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12715.p1
6.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 109
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12743.p1
10.1
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 114; verbal IQ, 108
91634084
91636962
2879
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12957.p1
9.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 92; verbal IQ, 113
92315094
92323083
7990
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12997.p1
9.6
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13053.p1
4.6
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 49; verbal IQ, 25
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13294.p1
5.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13303.p1
5.6
F
ASD
NA
Full-scale IQ, 101; non-verbal IQ, 107; verbal IQ, 90
91633777
91636962
3186
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case66
5 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
92648184
93249056
600873
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
poultney_13_ASD_discovery_controls-control04C27865A
N/A
M
Control
NIMH Control (NIMH ID 49262)
92379761
92393246
13486
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11000.s1
16.8
F
Control (matched sibling)
NA
NA
91632358
91636962
4605
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11017.s1
5.7
F
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11079.s1
13.4
F
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11194.s1
10.7
M
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11229.s1
6.1
M
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11275.s1
15.8
F
Control (matched sibling)
NA
NA
91632358
91636962
4605
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11316.s1
13.3
F
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11367.s1
4.6
F
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11551.s1
12.8
F
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11569.s1
5.6
M
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11634.s1
9.9
M
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11694.s1
6.6
F
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11868.s1
5.2
F
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11918.s1
12.3
M
Control (matched sibling)
NA
NA
91765375
91775918
10544
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11964.s1
6.7
F
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12020.s1
13.8
M
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12301.s1
16.8
F
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12320.s1
23.3
F
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12358.s1
6.7
M
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12403.s1
9.7
F
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12650.s1
4.7
F
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12682.s1
8.1
M
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12916.s1
12.3
M
Control (matched sibling)
NA
NA
91633777
91643170
9394
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12997.s1
5.7
F
Control (matched sibling)
NA
NA
91633777
91643170
9394
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13053.s1
6.6
M
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13251.s1
6.3
F
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13327.s1
10.3
F
Control (matched sibling)
NA
NA
91633777
91636962
3186
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family62_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
92243234
92417554
174321
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family62_Twin_2
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
92243234
92417554
174321
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseMT_12.3
PCR
Maternal
C9orf129
bremer_11_ASD_discovery_cases-case31
MLPA, FISH
Paternal
NA
NA
BEND3P2,MIR3651,SNORA84,MIR4670,RNU6-714P,EEF1DP2,SNX18P2,NOL8,OGN,OMD,ASPN,ECM2,BICD2,ANKRD19P,ZNF484,ALOX15P2,FGD3,LINC00475,CENPP,IPPK,IARS
engchuan_15_ASD_discovery_cases-case4399_1
Unknown
OMD,ASPN,CENPP
girirajan_13a_ASD_discovery_cases-14039.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
MIR3651,SNORA84,NOL8,IARS
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002149
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HSPE1P22,MTATP6P29,MTCO3P29,MTND3P23,MTND4P15,BEND3P2,MIR3651,SNORA84,MTND4LP7,NOL8,ROR2,SPTLC1,LINC00475,CENPP,IARS
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002150
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HSPE1P22,MTATP6P29,MTCO3P29,MTND3P23,MTND4P15,BEND3P2,MIR3651,SNORA84,MTND4LP7,NOL8,ROR2,SPTLC1,LINC00475,CENPP,IARS
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003784
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
ROR2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005106
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PAICSP2,MIR3910-1,MIR3910-2,ROR2
krumm_13_ASD_discovery_cases-case12334.p1
Maternal
Simplex
Segregated
IARS
krumm_15_ASD_discovery_cases-case12957.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
NOL8
krumm_15_ASD_discovery_cases-case14039.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
MIR3651,SNORA84,NOL8,IARS
prasad_12_ASD_discovery_cases-case117525L
qPCR
Unknown
Simplex
Unknown (unaffected sibling not tested)
MIR3910-1,MIR3910-2
prasad_12_ASD_discovery_cases-case160789
Unknown
Unknown
Unknown
SPTLC1
prasad_12_ASD_discovery_cases-case60666L
qPCR
Paternal
Simplex
Not segregated (deletion present in unaffected sibling)
MIR3910-1,MIR3910-2
prasad_12_ASD_discovery_cases-case60973L
qPCR
Maternal
Multiplex
Not segregated (deletion present in unaffected sibling)
MIR3910-1,MIR3910-2
prasad_12_ASD_discovery_cases-case88253
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11000.p1
Both parents
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-11050.p1
Paternal
Simplex (trio)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-11064.p1
Paternal
Simplex (quad-proband matched)
Segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-11079.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-11187.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-11202.p1
Paternal
Simplex (trio)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-11229.p1
Both parents
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-11275.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-11367.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-11439.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-11455.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-11498.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-11551.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-11569.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-11694.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-11812.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-11878.p1
Maternal
Simplex (trio)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-11964.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-12020.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-12060.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-12071.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12119.p1
Paternal
Simplex (trio)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-12149.p1
Paternal
Simplex (trio)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-12247.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-12306.p1
Maternal
Simplex (trio)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-12379.p1
Paternal
Simplex (trio)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-12418.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-12634.p1
Maternal
Simplex (trio)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-12650.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-12682.p1
Both parents
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-12715.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-12743.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-12957.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NOL8
sanders_11_ASD_discovery_cases-12997.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-13053.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-13294.p1
Maternal
Simplex (trio)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_cases-13303.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR3910-1,MIR3910-2,ROR2
sansovic_17_DD/ID/ASD_discovery_cases-case66
Unknown
RNU6-714P,EEF1DP2,SNX18P2,BICD2,ANKRD19P,ZNF484,ALOX15P2,FGD3,CARD19,NINJ1,IPPK,SUSD3,WNK2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
poultney_13_ASD_discovery_controls-control04C27865A
Unknown
OGN,CENPP
sanders_11_ASD_discovery_controls-11000.s1
Both parents
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-11017.s1
Maternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-11079.s1
Paternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-11194.s1
Maternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-11229.s1
Both parents
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-11275.s1
Paternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-11316.s1
Paternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-11367.s1
Paternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-11551.s1
Maternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-11569.s1
Maternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-11634.s1
Paternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-11694.s1
Paternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-11868.s1
Maternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-11918.s1
Unknown
Simplex (quad)
NA
ROR2
sanders_11_ASD_discovery_controls-11964.s1
Maternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-12020.s1
Paternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-12301.s1
Maternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-12320.s1
Maternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-12358.s1
Maternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-12403.s1
Paternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-12650.s1
Maternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-12682.s1
Both parents
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-12916.s1
Paternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-12997.s1
Maternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-13053.s1
Paternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-13251.s1
Paternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
sanders_11_ASD_discovery_controls-13327.s1
Paternal
Simplex (quad)
NA
MIR3910-1,MIR3910-2,ROR2
stamouli_18_ASD/NDD_discovery_controls-family62_Twin_1
Unknown
N/A (both twins typically developing)
MIR3651,SNORA84,NOL8,OGN,OMD,CENPP,IARS
stamouli_18_ASD/NDD_discovery_controls-family62_Twin_2
Unknown
N/A (both twins typically developing)
MIR3651,SNORA84,NOL8,OGN,OMD,CENPP,IARS
No Animal Model Data Available