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8q11.22CNV Type: Deletion-Duplication


Largest CNV size: 10442 bp

Statistics Box:
Number of Reports: 4


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

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
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