8q11.22CNV Type: Deletion-Duplication
Largest CNV size: 10442 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
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...
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
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
316529
1
2
3
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
2215878
2
4
6
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
8747
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
10442
36
8
44
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
39315
0
1
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
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)
8747
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.
58341
33
5
38
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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-case14271_3940
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50820782
50979033
158252
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14291_4120
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
51129859
51163657
33799
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8681_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50967266
51283795
316530
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002313
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
49455206
51671083
2215878
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002678
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
49970122
51353867
1383746
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003831
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50478437
50790996
312560
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004040
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
49701257
50862570
1161314
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005121
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50236126
51705446
1469321
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005378
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
49701257
50844624
1143368
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case106392
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
51264090
51272836
8747
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11017.p1
4.3
M
Autism
NA
Full-scale IQ, 132; non-verbal IQ, 136; verbal IQ, 116
50274046
50279139
5094
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11037.p1
9.3
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 86; verbal IQ, 83
50274046
50279139
5094
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11098.p1
9.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
50314668
50315576
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11113.p1
15
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 100; verbal IQ 90
50274046
50284488
10443
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11220.p1
12.1
F
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
50274046
50279139
5094
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11409.p1
4.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 101; verbal IQ 90
50314668
50315576
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11485.p1
5.6
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
51587589
51593451
5863
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11768.p1
8.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 89
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11834.p1
10.5
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 93; verbal IQ, 46
50352064
50359223
7160
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11835.p1
6.3
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 92; verbal IQ, 77
50274046
50279139
5094
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11846.p1
15.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11881.p1
9.5
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 90; verbal IQ, 89
50274046
50279139
5094
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11999.p1
5.8
F
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12031.p1
13.5
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 108; verbal IQ, 133
50274046
50279139
5094
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12037.p1
10.3
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 88
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12048.p1
7.2
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 87; verbal IQ, 40
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12102.p1
5.1
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12103.p1
6.6
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12137.p1
5.9
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
50314668
50315618
951
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
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12185.p1
7.2
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 94; verbal IQ, 86
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12229.p1
10.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 89; verbal IQ, 80
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12252.p1
7.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 79; verbal IQ, 106
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12266.p1
5.7
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12272.p1
5.4
M
Autism
NA
Full-scale IQ, 70; non-verbal IQ, 79; verbal IQ, 62
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12299.p1
6.3
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 125
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12330.p1
4.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12334.p1
8.9
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12417.p1
4.4
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 96; verbal IQ, 83
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12477.p1
14.1
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 28; verbal IQ, 27
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12582.p1
6.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12597.p1
6.4
M
Autism
NA
Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 66
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12614.p1
6.1
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12691.p1
10.9
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12722.p1
11.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 77
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12787.p1
7.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 130; verbal IQ, 88
50274046
50279139
5094
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12827.p1
5.5
F
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 78
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12843.p1
6.2
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 84
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12851.p1
4.7
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
50314668
50315618
951
GRCh38
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
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12939.p1
12.8
M
Autism
NA
Full-scale IQ, 20; non-verbal IQ, 28; verbal IQ, 11
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12969.p1
12.2
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 78; verbal IQ, 70
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13039.p1
6.3
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 135; verbal IQ, 93
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13083.p1
7.5
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 67; verbal IQ, 23
50314668
50315618
951
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
engchuan_15_ASD_discovery_controls-controlHABC_902683_902683
N/A
N/A
Control
No previous psychiatric history
49987575
50026890
39316
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11017.s1
5.7
F
Control (matched sibling)
NA
NA
50274046
50279139
5094
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11030.s1
5.3
F
Control (matched sibling)
NA
NA
50274046
50279139
5094
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11120.s1
11.3
F
Control (matched sibling)
NA
NA
50274046
50279139
5094
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11328.s1
9.5
F
Control (matched sibling)
NA
NA
50314668
50315576
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11441.s1
4.3
M
Control (matched sibling)
NA
NA
50314668
50315576
909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11485.s1
10.5
F
Control (matched sibling)
NA
NA
51587589
51593451
5863
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11567.s1
7.7
M
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11834.s1
8.3
M
Control (matched sibling)
NA
NA
50352064
50359223
7160
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11835.s1
8
M
Control (matched sibling)
NA
NA
50274046
50279139
5094
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11881.s1
14.8
F
Control (matched sibling)
NA
NA
50274046
50279139
5094
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11990.s1
13.4
M
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12037.s1
16.8
M
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12185.s1
4.9
F
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12272.s1
9.8
F
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12299.s1
9.7
F
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12359.s1
6.3
F
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12385.s1
10.7
F
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12497.s1
10.8
F
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12582.s1
9.2
M
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12596.s1
6.3
F
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
51214553
51229371
14819
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12691.s1
23.8
M
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12701.s1
10.4
M
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12736.s1
7.1
F
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12832.s1
4.5
F
Control (matched sibling)
NA
NA
50186417
50198856
12440
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12838.s1
7.1
F
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12858.s1
6.3
F
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12892.s1
15.4
F
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12939.s1
5.7
M
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12964.s1
8.5
M
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12969.s1
5.8
M
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13015.s1
7.1
F
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13039.s1
4.5
M
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13063.s1
4
F
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13083.s1
9.8
F
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13226.s1
10.3
F
Control (matched sibling)
NA
NA
50314668
50315618
951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13296.s1
4.3
F
Control (matched sibling)
NA
NA
49668392
49726733
58342
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case14271_3940
Unknown
engchuan_15_ASD_discovery_cases-case14291_4120
Unknown
engchuan_15_ASD_discovery_cases-case8681_201
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002313
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PSAT1P1,CYCSP22,BRIX1P1,PXDNL,SNTG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002678
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
CYCSP22,PXDNL,SNTG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003831
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CYCSP22,SNTG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004040
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PSAT1P1,CYCSP22,SNTG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005121
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
CYCSP22,BRIX1P1,PXDNL,SNTG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005378
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PSAT1P1,CYCSP22,SNTG1
prasad_12_ASD_discovery_cases-case106392
Unknown
Unknown
Unknown
SNTG1
sanders_11_ASD_discovery_cases-11017.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-11037.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-11098.p1
Paternal
Simplex (quad-proband matched)
Segregated
SNTG1
sanders_11_ASD_discovery_cases-11113.p1
Paternal
Simplex (trio)
NA
SNTG1
sanders_11_ASD_discovery_cases-11220.p1
Maternal
Simplex (quad-proband matched)
Segregated
SNTG1
sanders_11_ASD_discovery_cases-11409.p1
Maternal
Simplex (trio)
NA
SNTG1
sanders_11_ASD_discovery_cases-11485.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PXDNL
sanders_11_ASD_discovery_cases-11768.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-11834.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-11835.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-11846.p1
Maternal
Simplex (trio)
NA
SNTG1
sanders_11_ASD_discovery_cases-11881.p1
Both parents
Simplex (quad-proband matched)
Segregated
SNTG1
sanders_11_ASD_discovery_cases-11999.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-12031.p1
Maternal
Simplex (trio)
NA
SNTG1
sanders_11_ASD_discovery_cases-12037.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-12048.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-12102.p1
Maternal
Simplex (trio)
NA
SNTG1
sanders_11_ASD_discovery_cases-12103.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
SNTG1
sanders_11_ASD_discovery_cases-12137.p1
Paternal
Simplex (trio)
NA
SNTG1
sanders_11_ASD_discovery_cases-12149.p1
Maternal
Simplex (trio)
NA
SNTG1
sanders_11_ASD_discovery_cases-12185.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-12229.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-12252.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-12266.p1
Paternal
Simplex (trio)
NA
SNTG1
sanders_11_ASD_discovery_cases-12272.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-12299.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-12330.p1
Paternal
Simplex (trio)
NA
SNTG1
sanders_11_ASD_discovery_cases-12334.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-12417.p1
Paternal
Simplex (trio)
NA
SNTG1
sanders_11_ASD_discovery_cases-12477.p1
Paternal
Simplex (trio)
NA
SNTG1
sanders_11_ASD_discovery_cases-12582.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-12597.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-12614.p1
Maternal
Simplex (trio)
NA
SNTG1
sanders_11_ASD_discovery_cases-12691.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-12722.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-12787.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-12827.p1
Both parents
Simplex (trio)
NA
SNTG1
sanders_11_ASD_discovery_cases-12843.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
SNTG1
sanders_11_ASD_discovery_cases-12851.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-12937.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-12939.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-12969.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-13039.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SNTG1
sanders_11_ASD_discovery_cases-13083.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SNTG1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_902683_902683
Unknown
SNTG1
sanders_11_ASD_discovery_controls-11017.s1
Paternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-11030.s1
Paternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-11120.s1
Paternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-11328.s1
Paternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-11441.s1
Maternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-11485.s1
Paternal
Simplex (quad)
NA
PXDNL
sanders_11_ASD_discovery_controls-11567.s1
Both parents
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-11834.s1
Maternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-11835.s1
Maternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-11881.s1
Paternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-11990.s1
Paternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-12037.s1
Maternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-12185.s1
Paternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-12272.s1
Both parents
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-12299.s1
Paternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-12359.s1
Maternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-12385.s1
Maternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-12497.s1
Maternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-12582.s1
Both parents
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-12596.s1
Paternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-12638.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12691.s1
Both parents
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-12701.s1
Paternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-12736.s1
Maternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-12832.s1
Paternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-12838.s1
Both parents
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-12858.s1
Maternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-12892.s1
Paternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-12939.s1
Maternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-12964.s1
Both parents
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-12969.s1
Both parents
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-13015.s1
Maternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-13039.s1
Maternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-13063.s1
Paternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-13076.s1
Paternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-13083.s1
Both parents
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-13226.s1
Paternal
Simplex (quad)
NA
SNTG1
sanders_11_ASD_discovery_controls-13296.s1
Unknown
Simplex (quad)
NA
No Animal Model Data Available