2p24.3CNV Type: Deletion-Duplication
Largest CNV size: 86802 bp
Statistics Box:
Number of Reports: 8
Number of Reports: 8
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
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-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
85096
2
2
4
glessner_09_ASD_discovery_cases
Autism Case-Control (ACC) case cohort: 54% from simplex families, 46% from multiplex families
859
859 autism (ADI). 708 autism, 124 ASD, 27 not autism (based on ADOS)
Range, 2-21
81.8% Male
46231
0
9
9
glessner_09_ASD_replication_cases
Autism Genetic Resource Exchange (AGRE) case cohort: 5% from simplex families, 95% from multiplex families
1336
1202 autism, 134 ASD (AGRE status). 775 autism, 171 ASD, 76 not ASD or autism (based on ADOS)
Mean, 9.2 5.3
78.7% Male
46231
0
24
24
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
874051
1
0
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
45953
1
0
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
N/A
5
8
13
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
71548
2
2
4
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
107077
1
0
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
86802
11
25
36
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
297199
5
3
8
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
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
2
7
9
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
10593
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)
71548
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.
83385
8
16
24
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
glessner_09_ASD_discovery_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
glessner_09_ASD_replication_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
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
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
glessner_09_ASD_discovery_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
glessner_09_ASD_replication_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
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
Cases
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_cases-case14106_1860
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
13022184
13054539
32356
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14357_4710
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14222921
14260350
37430
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4144_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
13317671
13402767
85097
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6249_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
15327901
15402228
74328
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-12989_64063
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-3597_200603189
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-6595_40821
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-6768409217
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-9742760001
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-AU63903
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
Yes
glessner_09_ASD_discovery_cases-B200302_24341
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-B207203
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
Yes
glessner_09_ASD_discovery_cases-C242403
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU015203
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU015904
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU019705
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU028403
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU068203
NA
M
ASD
Autism
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU068204
NA
M
ASD
Autism
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU073704
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU074203
NA
M
ASD
Autism
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU074204
NA
F
ASD
ASD
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU076304
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU0928302
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU0958301
NA
M
ASD
Autism
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU0958304
NA
F
ASD
Autism
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU0972302
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1033302
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1147302
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1182302
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1207302
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1222312
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1321301
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1392301
NA
M
ASD
Autism
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1392302
NA
M
ASD
Autism
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1510302
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU1673301
NA
ASD
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000477
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
13383787
14257839
874053
GRCh38
Deletion
Yes
mosca_16_DCD_discovery_cases-case115103
N/A
M
DCD/RD
Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis unaffected.
13586117
13632069
45953
GRCh38
Deletion
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient143
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient144
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient145
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient146
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient147
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient148
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient149
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient150
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient151
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient152
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient153
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient154
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient155
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
prasad_12_ASD_discovery_cases-case138150L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
14699966
14713248
13283
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case138646L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
14385709
14433607
47899
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case160789
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
14235044
14306591
71548
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case168999
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
16889094
16900613
11520
Unknown
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_84
4 yrs.
F
Intellectual disability
Additional clinical information N/A
Intellectual disability
14257927
14365003
107077
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11051.p1
12.2
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 114
14215597
14231337
15741
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11067.p1
11.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 128; verbal IQ, 121
13062091
13117503
55413
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11087.p1
6.1
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 86; verbal IQ 99
12948254
12949606
1353
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11148.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 82; verbal IQ, 99
14215597
14231337
15741
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11188.p1
15.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ 99
13568538
13579507
10970
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11224.p1
8.9
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 112; verbal IQ, 136
14215597
14231337
15741
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11263.p1
13.2
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 92
13062091
13142111
80021
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11365.p1
14.7
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 63; verbal IQ, 64
13062091
13148893
86803
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11375.p1
6.2
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 115; verbal IQ, 93
14876319
14928157
51839
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11480.p1
7.9
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 41; verbal IQ, 24
13568538
13579507
10970
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11494.p1
17.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 107; verbal IQ, 109
14215597
14231337
15741
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11545.p1
7.9
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 114; verbal IQ, 83
13062091
13138533
76443
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11568.p1
13.5
F
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 28
14450758
14463166
12409
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11583.p1
13
M
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 53; verbal IQ, 50
13062091
13138533
76443
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11604.p1
17.2
F
Autism
NA
Full-scale IQ, 18; non-verbal IQ, 23; verbal IQ 13
12948254
12949606
1353
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11615.p1
12.6
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 83; verbal IQ, 89
12948254
12949606
1353
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11657.p1
4.9
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 75; verbal IQ, 73
15019496
15054874
35379
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11734.p1
13.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
13062091
13142111
80021
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11998.p1
5.2
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 103; verbal IQ, 111
13062091
13138533
76443
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12046.p1
12.6
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 88; verbal IQ, 87
13069143
13142111
72969
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12083.p1
7.9
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
14215597
14231337
15741
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12252.p1
7.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 79; verbal IQ, 106
14215597
14227926
12330
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12417.p1
4.4
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 96; verbal IQ, 83
14215597
14231337
15741
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12619.p1
7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 87; verbal IQ, 87
13069143
13138533
69391
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12641.p1
10.3
F
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 63
13069143
13142111
72969
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12651.p1
10.8
M
Autism
NA
Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
13069143
13138533
69391
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12710.p1
4
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
14834307
14845194
10888
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12837.p1
4.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 89
14215597
14231337
15741
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12871.p1
16.5
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ, 59
14215597
14231337
15741
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12955.p1
13.1
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 66; verbal IQ, 67
13069143
13138533
69391
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13010.p1
7.9
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 122; verbal IQ, 99
16895726
16933076
37351
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13038.p1
8.8
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 94; verbal IQ, 100
13568538
13579507
10970
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13051.p1
6.9
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 105; verbal IQ, 104
14215597
14231337
15741
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13095.p1
9.8
M
Autism
NA
Full-scale IQ, 29; non-verbal IQ, 32; verbal IQ, 25
13062091
13138533
76443
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13152.p1
7.3
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 78
14772317
14792531
20215
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13323.p1
4.7
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 101
14215597
14231337
15741
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-controlB251812_1007854764
N/A
N/A
Control
No previous psychiatric history
15324379
15402228
77850
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB284216_1007874705
N/A
N/A
Control
No previous psychiatric history
13481577
13512651
31075
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB542731_1007854710
N/A
N/A
Control
No previous psychiatric history
15294843
15488099
193257
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB910509_1007845336
N/A
N/A
Control
No previous psychiatric history
15359003
15402228
43226
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB917258_0067942645
N/A
N/A
Control
No previous psychiatric history
14177682
14253335
75654
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900201_900201
N/A
N/A
Control
No previous psychiatric history
12847505
13025859
178355
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900628_900628
N/A
N/A
Control
No previous psychiatric history
14172737
14469937
297201
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900942_900942
N/A
N/A
Control
No previous psychiatric history
14876319
14928926
52608
GRCh38
Deletion
No
glessner_09_ASD_discovery_controls-disccontrol10
NA
Control
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol8
NA
Control
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_discovery_controls-disccontrol9
NA
Control
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol4
NA
Control
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol5
NA
Control
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol6
NA
Control
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
glessner_09_ASD_replication_controls-repcontrol7
NA
Control
NA
NA
13062091
13108322
46232
GRCh38
Duplication
No
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control10
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control11
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control12
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control13
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control14
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control6
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control7
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control8
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control9
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nord_11_ASD_discovery_controls-04C28301
Control
13626909
13637501
10593
Unknown
Deletion
sanders_11_ASD_discovery_controls-11067.s1
16.7
F
Control (matched sibling)
NA
NA
13062091
13138533
76443
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11148.s1
12.2
F
Control (matched sibling)
NA
NA
14215597
14231337
15741
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11224.s1
7.1
F
Control (matched sibling)
NA
NA
14215597
14231337
15741
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11274.s1
9.1
M
Control (matched sibling)
NA
NA
13062091
13138533
76443
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11365.s1
13.1
F
Control (matched sibling)
NA
NA
13062091
13145476
83386
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11494.s1
19.3
M
Control (matched sibling)
NA
NA
14215597
14231337
15741
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11545.s1
11.2
M
Control (matched sibling)
NA
NA
16895726
16933076
37351
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11545.s1
11.2
M
Control (matched sibling)
NA
NA
13062091
13138533
76443
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11868.s1
5.2
F
Control (matched sibling)
NA
NA
12948254
12949606
1353
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11911.s1
12
M
Control (matched sibling)
NA
NA
14772317
14792531
20215
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12048.s1
10.3
F
Control (matched sibling)
NA
NA
13927914
13945346
17433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12073.s1
7.3
F
Control (matched sibling)
NA
NA
14215597
14227926
12330
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12173.s1
4.1
M
Control (matched sibling)
NA
NA
14772317
14792531
20215
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12235.s1
6.7
M
Control (matched sibling)
NA
NA
13062091
13138533
76443
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12376.s1
14.7
F
Control (matched sibling)
NA
NA
14215597
14231337
15741
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12382.s1
12.4
M
Control (matched sibling)
NA
NA
13069143
13138533
69391
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12415.s1
16.2
F
Control (matched sibling)
NA
NA
13069143
13138533
69391
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12424.s1
6.2
F
Control (matched sibling)
NA
NA
13087740
13102696
14957
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12540.s1
4.5
F
Control (matched sibling)
NA
NA
13069143
13138533
69391
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12780.s1
5.9
M
Control (matched sibling)
NA
NA
14779044
14792531
13488
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12837.s1
6.5
F
Control (matched sibling)
NA
NA
14215597
14231337
15741
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12871.s1
17.4
F
Control (matched sibling)
NA
NA
14215597
14231337
15741
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13038.s1
5.8
M
Control (matched sibling)
NA
NA
13568538
13579507
10970
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13222.s1
13.5
F
Control (matched sibling)
NA
NA
14215597
14231337
15741
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case14106_1860
Unknown
engchuan_15_ASD_discovery_cases-case14357_4710
Unknown
LINC00276
engchuan_15_ASD_discovery_cases-case4144_1
Unknown
engchuan_15_ASD_discovery_cases-case6249_4
Unknown
NBAS
glessner_09_ASD_discovery_cases-12989_64063
Unknown
Unknown
NA
glessner_09_ASD_discovery_cases-3597_200603189
Unknown
Unknown
NA
glessner_09_ASD_discovery_cases-6595_40821
Unknown
Unknown
NA
glessner_09_ASD_discovery_cases-6768409217
Unknown
Unknown
NA
glessner_09_ASD_discovery_cases-9742760001
Unknown
Unknown
NA
glessner_09_ASD_discovery_cases-AU63903
qPCR
Unknown
Unknown
NA
glessner_09_ASD_discovery_cases-B200302_24341
Unknown
Unknown
NA
glessner_09_ASD_discovery_cases-B207203
qPCR
Unknown
Unknown
NA
glessner_09_ASD_discovery_cases-C242403
qPCR
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU015203
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU015904
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU019705
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU028403
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU068203
Paternal
Multiplex
Segregated
glessner_09_ASD_replication_cases-AU068204
Paternal
Multiplex
Segregated
glessner_09_ASD_replication_cases-AU073704
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU074203
Maternal
Multiplex
Segregated
glessner_09_ASD_replication_cases-AU074204
Maternal
Multiplex
Segregated
glessner_09_ASD_replication_cases-AU076304
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU0928302
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU0958301
Maternal
Multiplex
Not segregated
glessner_09_ASD_replication_cases-AU0958304
Maternal
Multiplex
Not segregated
glessner_09_ASD_replication_cases-AU0972302
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU1033302
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU1147302
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU1182302
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU1207302
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU1222312
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU1321301
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU1392301
Paternal
Multiplex
Segregated
glessner_09_ASD_replication_cases-AU1392302
Paternal
Multiplex
Segregated
glessner_09_ASD_replication_cases-AU1510302
Unknown
Unknown
NA
glessner_09_ASD_replication_cases-AU1673301
Unknown
Unknown
NA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000477
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC00276
mosca_16_DCD_discovery_cases-case115103
Unknown
Simplex
Unknown
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient143
Unknown
Unknown
Unknown
Minimum CNV gene content: NBAS
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient144
Unknown
Unknown
Unknown
Minimum CNV gene content: NBAS
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient145
Unknown
Unknown
Unknown
Minimum CNV gene content: NBAS
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient146
Unknown
Unknown
Unknown
Minimum CNV gene content: NBAS
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient147
Unknown
Unknown
Unknown
Minimum CNV gene content: NBAS
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient148
Unknown
Unknown
Unknown
Minimum CNV gene content: NBAS
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient149
Unknown
Unknown
Unknown
Minimum CNV gene content: NBAS
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient150
Unknown
Unknown
Unknown
Minimum CNV gene content: NBAS
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient151
Unknown
Unknown
Unknown
Minimum CNV gene content: NBAS
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient152
Unknown
Unknown
Unknown
Minimum CNV gene content: NBAS
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient153
Unknown
Unknown
Unknown
Minimum CNV gene content: NBAS
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient154
Unknown
Unknown
Unknown
Minimum CNV gene content: NBAS
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient155
Unknown
Unknown
Unknown
Minimum CNV gene content: NBAS
prasad_12_ASD_discovery_cases-case138150L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case138646L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case160789
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case168999
Unknown
Unknown
Unknown
0 genes
quintela_17_DD/ID_discovery_cases-caseID_84
Unknown
Unknown
RNU6-1288P,LINC00276
sanders_11_ASD_discovery_cases-11051.p1
Paternal
Simplex (quad-proband matched)
Segregated
LINC00276
sanders_11_ASD_discovery_cases-11067.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11087.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11148.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC00276
sanders_11_ASD_discovery_cases-11188.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11224.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC00276
sanders_11_ASD_discovery_cases-11263.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11365.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11375.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11480.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11494.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC00276
sanders_11_ASD_discovery_cases-11545.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11568.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11583.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11604.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11615.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11657.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11734.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11998.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12046.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12083.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC00276
sanders_11_ASD_discovery_cases-12252.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC00276
sanders_11_ASD_discovery_cases-12417.p1
Paternal
Simplex (trio)
NA
LINC00276
sanders_11_ASD_discovery_cases-12619.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12641.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12651.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12710.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12837.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC00276
sanders_11_ASD_discovery_cases-12871.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC00276
sanders_11_ASD_discovery_cases-12955.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13010.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13038.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13051.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC00276
sanders_11_ASD_discovery_cases-13095.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13152.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13323.p1
Maternal
Simplex (trio)
NA
LINC00276
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB251812_1007854764
Unknown
NBAS
engchuan_15_ASD_discovery_controls-controlB284216_1007874705
Unknown
engchuan_15_ASD_discovery_controls-controlB542731_1007854710
Unknown
NBAS
engchuan_15_ASD_discovery_controls-controlB910509_1007845336
Unknown
NBAS
engchuan_15_ASD_discovery_controls-controlB917258_0067942645
Unknown
LINC00276
engchuan_15_ASD_discovery_controls-controlHABC_900201_900201
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900628_900628
Unknown
RNU6-1288P,LINC00276
engchuan_15_ASD_discovery_controls-controlHABC_900942_900942
Unknown
glessner_09_ASD_discovery_controls-disccontrol10
Unknown
Unknown
NA
glessner_09_ASD_discovery_controls-disccontrol8
Unknown
Unknown
NA
glessner_09_ASD_discovery_controls-disccontrol9
Unknown
Unknown
NA
glessner_09_ASD_replication_controls-repcontrol4
Unknown
Unknown
NA
glessner_09_ASD_replication_controls-repcontrol5
Unknown
Unknown
NA
glessner_09_ASD_replication_controls-repcontrol6
Unknown
Unknown
NA
glessner_09_ASD_replication_controls-repcontrol7
Unknown
Unknown
NA
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control10
Unknown
Unknown
Minimum CNV gene content: NBAS
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control11
Unknown
Unknown
Minimum CNV gene content: NBAS
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control12
Unknown
Unknown
Minimum CNV gene content: NBAS
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control13
Unknown
Unknown
Minimum CNV gene content: NBAS
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control14
Unknown
Unknown
Minimum CNV gene content: NBAS
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control6
Unknown
Unknown
Minimum CNV gene content: NBAS
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control7
Unknown
Unknown
Minimum CNV gene content: NBAS
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control8
Unknown
Unknown
Minimum CNV gene content: NBAS
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control9
Unknown
Unknown
Minimum CNV gene content: NBAS
nord_11_ASD_discovery_controls-04C28301
0 genes
sanders_11_ASD_discovery_controls-11067.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11148.s1
Paternal
Simplex (quad)
NA
LINC00276
sanders_11_ASD_discovery_controls-11224.s1
Maternal
Simplex (quad)
NA
LINC00276
sanders_11_ASD_discovery_controls-11274.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11365.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11494.s1
Maternal
Simplex (quad)
NA
LINC00276
sanders_11_ASD_discovery_controls-11545.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11545.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11868.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11911.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12048.s1
Paternal
Simplex (quad)
NA
LINC00276
sanders_11_ASD_discovery_controls-12073.s1
Paternal
Simplex (quad)
NA
LINC00276
sanders_11_ASD_discovery_controls-12173.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12235.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12376.s1
Paternal
Simplex (quad)
NA
LINC00276
sanders_11_ASD_discovery_controls-12382.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12415.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12424.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12540.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12780.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12837.s1
Paternal
Simplex (quad)
NA
LINC00276
sanders_11_ASD_discovery_controls-12871.s1
Paternal
Simplex (quad)
NA
LINC00276
sanders_11_ASD_discovery_controls-13038.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13222.s1
Maternal
Simplex (quad)
NA
LINC00276
No Animal Model Data Available