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13q21.33CNV Type: Deletion-Duplication


Largest CNV size: 820337 bp

Statistics Box:
Number of Reports: 8



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
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
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 44149
 1
 0
 1
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 63520
 1
 1
 2
 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
 820337
 32
 7
 39
 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
 770643
 1
 1
 2
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children in Toronto, Ontario; McMaster University, Hamilton, Ontario; Memorial University of Newfoundland, St. John's, Newfoundland); the majority of these cases had been previously genotyped by SNP arrays with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were exclu
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 20211
 0
 1
 1
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 1016000
 0
 1
 1
 egger_14_ASD_discovery_cases
 ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
 73
 Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
 N/A
 80.82% Male
 18606
 1
 0
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 145574
 8
 1
 9

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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.
 
 48485
 3
 0
 3
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 820337
 28
 7
 35
 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)
 20211
 0
 0
 0
 egger_14_ASD_discovery_controls
 CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
 2357
 Control
 N/A
 N/A
 0
 0
 0
 0
 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
 241396
 5
 0
 5
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 14567
 0
 2
 2

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP & iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), and/or array SNP (Affy 500K)
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3
 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 (n=334) or Illumina 1M v3 (n=840)
 PennCNV, QuantiSNP, & GNOSIS
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K or 105K
 
 Feature Extraction & DNA Analytics
 FISH, qPCR, MLPA, aCGH, or 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
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 egger_14_ASD_discovery_cases
  68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
 Array SNP
  Affymetrix Genome-Wide Human SNP 6
 Birdsuite, iPattern, Genotyping Console
 
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, & GNOSIS
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K or 105K
 
  Feature Extraction & DNA Analytics
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH (PDx controls)
  Agilent 1M (PDx controls)
  PDx controls: ADM-2, DNAcopy (R Bioconductor)
  PDx controls: DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  egger_14_ASD_discovery_controls
  European
  N/A
  N/A
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  pinto_10_ASD_discovery_cases-case5390_3
 NA
 M
 ASD
 NA
 NA
 68120775
 68164923
  44149
 
 Deletion
 Yes
  gai_11_ASD_replication_cases-AU050704
 
 
 Autism
 
 
 70260719
 70274625
  13907
 
 Deletion
 No
  gai_11_ASD_replication_cases-AU081104
 
 
 Autism
 
 
 68625043
 68688562
  63520
 
 Duplication
 No
  sanders_11_ASD_discovery_cases-11002.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 111; verbal IQ, 80
 70999362
 71028770
  29408
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11029.p1
 9
 F
 Autism
 NA
 Full-scale IQ, 29; non-verbal IQ, 36; verbal IQ, 21
 68138946
 68164923
  25977
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11031.p1
 13
 M
 Aspergers
 NA
 Full-scale IQ, 118; non-verbal IQ, 110; verbal IQ, 128
 69832067
 69877994
  45927
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11059.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 103; verbal IQ, 119
 69622108
 69689787
  67679
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11059.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 103; verbal IQ, 119
 70998000
 71043339
  45339
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11099.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 77
 71023642
 71028770
  5128
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11124.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 72; verbal IQ, 44
 68137456
 68164923
  27467
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11132.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 49; verbal IQ, 32
 70998000
 71028770
  30770
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11164.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 107; verbal IQ, 89
 68138946
 68164923
  25977
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11198.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 120; non-verbal IQ, 115; verbal IQ, 123
 69705950
 69717579
  11629
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11309.p1
 16
 M
 Autism
 NA
 Full-scale IQ, 26; non-verbal IQ, 34; verbal IQ, 26
 70210068
 70213220
  3152
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11365.p1
 14
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 63; verbal IQ, 64
 68138946
 68164923
  25977
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11439.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
 68138946
 68165982
  27036
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11629.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 50; non-verbal IQ, 67; verbal IQ, 33
 71923967
 72062295
  138328
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11698.p1
 8
 F
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 110; verbal IQ, 117
 68252838
 68295496
  42658
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11841.p1
 10
 F
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
 71591836
 71598027
  6191
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11941.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 86
 69969424
 69981099
  11675
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11962.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 99; verbal IQ, 75
 71025268
 71025488
  220
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12073.p1
 5
 F
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 105
 69705950
 69717579
  11629
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12118.p1
 12
 F
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 74; verbal IQ, 102
 71023642
 71025488
  1846
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12221.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
 69542468
 69546838
  4370
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12380.p1
 14
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 80
 71014918
 71028770
  13852
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12565.p1
 10
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
 69704551
 69717579
  13028
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12610.p1
 5
 M
 ASD
 NA
 Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 71
 68410813
 68492289
  81476
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12622.p1
 15
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 97; verbal IQ, 70
 71023642
 71025488
  1846
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12645.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 84; verbal IQ, 94
 70998000
 71046747
  48747
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12739.p1
 6
 M
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 112; verbal IQ, 77
 70998000
 71028770
  30770
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12743.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 114; verbal IQ, 108
 71007209
 71043339
  36130
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12748.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 95; verbal IQ, 93
 70998000
 71046747
  48747
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12916.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 78; verbal IQ, 97
 69476307
 69637654
  161347
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12916.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 78; verbal IQ, 97
 69678281
 70498618
  820337
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-13013.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
 70999362
 71033579
  34217
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13150.p1
 8
 F
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 50
 70998000
 71033579
  35579
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13218.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 98; verbal IQ, 93
 70998000
 71046747
  48747
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13301.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 95; verbal IQ, 124
 70998000
 71046747
  48747
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13304.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 61; verbal IQ, 111
 68138946
 68165982
  27036
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13322.p1
 16
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 56
 69458732
 69476514
  17782
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13323.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 101
 71007209
 71043339
  36130
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13327.p1
 12
 M
 Aspergers
 NA
 Full-scale IQ, 103; non-verbal IQ, 95; verbal IQ, 118
 71023642
 71033579
  9937
 hg18
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002449
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 69291681
 70062324
  770643
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004916
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 69408297
 69678462
  270165
 NCBI36
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case74431
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 70762609
 70782819
  20211
 
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-12916.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 69480000
 70490000
  1016000
 hg18
 Duplication
 No
  egger_14_ASD_discovery_cases-caseA94
 N/A
 N/A
 ASD
 CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
 
 69452461
 69471066
  18606
 Build36/hg18
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case14219_3520
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 69566844
 69681012
  114168
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14324_4380
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 67259912
 67340252
  80340
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14382_4950
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 68410813
 68488678
  77865
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2274_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 67702749
 67768025
  65276
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4377_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 69747154
 69851315
  104161
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4466_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 68069229
 68214803
  145574
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5390_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 68120775
 68164923
  44148
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6188_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 68137087
 68180389
  43302
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6383_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 68137087
 68180389
  43302
 hg18
 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
  nord_11_ASD_discovery_controls-04C26873
 
 
  Control
 
 
  67948667
  67970938
  22272
 
  Deletion
 
  nord_11_ASD_discovery_controls-04C27429
 
 
  Control
 
 
  67871979
  67900637
  28659
 
  Deletion
 
  nord_11_ASD_discovery_controls-04C27992
 
 
  Control
 
 
  69699794
  69748278
  48485
 
  Deletion
 
  sanders_11_ASD_discovery_controls-11002.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  70999362
  71028770
  29408
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11027.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  71007209
  71028770
  21561
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11048.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  68134636
  68164923
  30287
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11098.s1
  5
  F
  Control (matched sibling)
  NA
  NA
  69542468
  69546838
  4370
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11099.s1
  14
  F
  Control (matched sibling)
  NA
  NA
  71025268
  71028770
  3502
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11132.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  70040215
  70041654
  1439
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11196.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  69629239
  69688387
  59148
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11198.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  69705950
  69717579
  11629
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11254.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  70315922
  70328586
  12664
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11323.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  69705950
  69717579
  11629
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11347.s1
  17
  M
  Control (matched sibling)
  NA
  NA
  70998000
  71028770
  30770
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11365.s1
  13
  F
  Control (matched sibling)
  NA
  NA
  68138724
  68164923
  26199
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11367.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  70998000
  71028770
  30770
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11374.s1
  18
  F
  Control (matched sibling)
  NA
  NA
  71007209
  71043339
  36130
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11488.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  69705950
  69717579
  11629
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11501.s1
  13
  M
  Control (matched sibling)
  NA
  NA
  69631845
  69689787
  57942
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11526.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  68138946
  68164923
  25977
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11568.s1
  16
  F
  Control (matched sibling)
  NA
  NA
  70918943
  71094982
  176039
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11597.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  69631450
  69693343
  61893
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11638.s1
  14
  M
  Control (matched sibling)
  NA
  NA
  69705950
  69717579
  11629
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11941.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  69969424
  69981099
  11675
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12073.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  69705950
  69717579
  11629
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12220.s1
  16
  M
  Control (matched sibling)
  NA
  NA
  71025268
  71028770
  3502
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12257.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  71023642
  71033579
  9937
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12313.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  71007209
  71033579
  26370
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12376.s1
  14
  F
  Control (matched sibling)
  NA
  NA
  71014918
  71043339
  28421
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12380.s1
  17
  F
  Control (matched sibling)
  NA
  NA
  71014918
  71028770
  13852
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12462.s1
  20
  F
  Control (matched sibling)
  NA
  NA
  69760579
  69867303
  106724
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12610.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  68410813
  68490629
  79816
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12739.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  70998000
  71043339
  45339
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12916.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  69477139
  69622108
  144969
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12916.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  69678281
  70498618
  820337
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12933.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  71007209
  71033579
  26370
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13039.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  67530780
  67552774
  21994
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-13233.s1
  10
  F
  Control (matched sibling)
  NA
  NA
  69542468
  69546838
  4370
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900081_900081
  N/A
  N/A
  Control
  No previous psychiatric history
 
  69856709
  69899308
  42599
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB719465_1007853907
  N/A
  N/A
  Control
  No previous psychiatric history
 
  68410813
  68488678
  77865
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB484536_1007842254
  N/A
  N/A
  Control
  No previous psychiatric history
 
  67503204
  67744600
  241396
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036006450_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  68209229
  68250196
  40967
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036001873_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  69378175
  69546838
  168663
  hg18
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1522
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  70013572
  70028138
  14567
  N/A
  Triplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 pinto_10_ASD_discovery_cases-case5390_3
 Agilent1M
 
 maternal
 NA
 NA
 0 genes
 
 gai_11_ASD_replication_cases-AU050704
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU081104
 
 
 Inherited
 
 
 0 genes
 
 sanders_11_ASD_discovery_cases-11002.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DACH1 intronic
 
 sanders_11_ASD_discovery_cases-11029.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11031.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11059.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11059.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 DACH1
 
 sanders_11_ASD_discovery_cases-11099.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 DACH1 intronic
 
 sanders_11_ASD_discovery_cases-11124.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11132.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 DACH1 intronic
 
 sanders_11_ASD_discovery_cases-11164.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11198.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11309.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11365.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11439.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11629.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11698.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11841.p1
 
 
 Paternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-11941.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11962.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DACH1 intronic
 
 sanders_11_ASD_discovery_cases-12073.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12118.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DACH1 intronic
 
 sanders_11_ASD_discovery_cases-12221.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 KLHL1 intronic
 
 sanders_11_ASD_discovery_cases-12380.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DACH1 intronic
 
 sanders_11_ASD_discovery_cases-12565.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12610.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12622.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 DACH1 intronic
 
 sanders_11_ASD_discovery_cases-12645.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DACH1
 
 sanders_11_ASD_discovery_cases-12739.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DACH1 intronic
 
 sanders_11_ASD_discovery_cases-12743.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DACH1
 
 sanders_11_ASD_discovery_cases-12748.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DACH1
 
 sanders_11_ASD_discovery_cases-12916.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATXN8OS, KLHL1
 
 sanders_11_ASD_discovery_cases-12916.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13013.p1
 
 
 Unknown
 Simplex (trio)
 NA
 DACH1
 
 sanders_11_ASD_discovery_cases-13150.p1
 
 
 Both parents
 Simplex (trio)
 NA
 DACH1
 
 sanders_11_ASD_discovery_cases-13218.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 DACH1
 
 sanders_11_ASD_discovery_cases-13301.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DACH1
 
 sanders_11_ASD_discovery_cases-13304.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-13322.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 KLHL1 intronic
 
 sanders_11_ASD_discovery_cases-13323.p1
 
 
 Both parents
 Simplex (trio)
 NA
 DACH1
 
 sanders_11_ASD_discovery_cases-13327.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DACH1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002449
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 KLHL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004916
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 KLHL1
 
 prasad_12_ASD_discovery_cases-case74431
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 girirajan_13a_ASD_discovery_cases-12916.p1
 
 
 Unknown
 Simplex
 Unknown
 KLHL1
 
 egger_14_ASD_discovery_cases-caseA94
 qPCR
 
 Unknown
 
 Unknown
 KLHL1
 
 engchuan_15_ASD_discovery_cases-case14219_3520
 
 
 Unknown
 
 
 ATXN8OS;KLHL1
 
 engchuan_15_ASD_discovery_cases-case14324_4380
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case14382_4950
 
 
 Unknown
 
 
 MIR548H4
 
 engchuan_15_ASD_discovery_cases-case2274_1
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case4377_1
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case4466_1
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case5390_3
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case6188_3
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case6383_5
 
 
 Unknown
 
 
 0 genes
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
nord_11_ASD_discovery_controls-04C26873
 
 
 
 
 
  0 genes
 
nord_11_ASD_discovery_controls-04C27429
 
 
 
 
 
  0 genes
 
nord_11_ASD_discovery_controls-04C27992
 
 
 
 
 
  0 genes
 
sanders_11_ASD_discovery_controls-11002.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DACH1 intronic
 
sanders_11_ASD_discovery_controls-11027.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DACH1 intronic
 
sanders_11_ASD_discovery_controls-11048.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11098.s1
 
 
  Paternal
  Simplex (quad)
  NA
  KLHL1 intronic
 
sanders_11_ASD_discovery_controls-11099.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DACH1 intronic
 
sanders_11_ASD_discovery_controls-11132.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11196.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11198.s1
 
 
  Both parents
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11254.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11323.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11347.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DACH1 intronic
 
sanders_11_ASD_discovery_controls-11365.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11367.s1
 
 
  Unknown
  Simplex (quad)
  NA
  DACH1 intronic
 
sanders_11_ASD_discovery_controls-11374.s1
 
 
  Unknown
  Simplex (quad)
  NA
  DACH1
 
sanders_11_ASD_discovery_controls-11488.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11501.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11526.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11568.s1
 
 
  Unknown
  Simplex (quad)
  NA
  DACH1
 
sanders_11_ASD_discovery_controls-11597.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11638.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11941.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12073.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12220.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DACH1 intronic
 
sanders_11_ASD_discovery_controls-12257.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DACH1
 
sanders_11_ASD_discovery_controls-12313.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DACH1
 
sanders_11_ASD_discovery_controls-12376.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DACH1
 
sanders_11_ASD_discovery_controls-12380.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DACH1 intronic
 
sanders_11_ASD_discovery_controls-12462.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12610.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12739.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DACH1
 
sanders_11_ASD_discovery_controls-12916.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATXN8OS, KLHL1
 
sanders_11_ASD_discovery_controls-12916.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12933.s1
 
 
  Unknown
  Simplex (quad)
  NA
  DACH1
 
sanders_11_ASD_discovery_controls-13039.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13233.s1
 
 
  Maternal
  Simplex (quad)
  NA
  KLHL1 intronic
 
engchuan_15_ASD_discovery_controls-controlHABC_900081_900081
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB719465_1007853907
 
 
  Unknown
 
 
  MIR548H4
 
engchuan_15_ASD_discovery_controls-controlB484536_1007842254
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-control110036006450_
 
 
  Unknown
 
 
  MIR548H4
 
engchuan_15_ASD_discovery_controls-control110036001873_
 
 
  Unknown
 
 
  KLHL1
 
kanduri_15_ASD_discovery_controls-control_split1522
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, LINC00550(dist=554115),KLHL1(dist=246587)
 

No Animal Model Data Available
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