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13q21.32CNV Type: Deletion-Duplication


Largest CNV size: 830600 bp

Statistics Box:
Number of Reports: 12



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
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 szatmari_07_ASD_discovery_cases
 Autism Genome Project Consortium (AGP): ASD patients from 173 families with at least two affected individuals.
 196
 Patients diagnosed with ASD based on ADI-R and ADOS
 
 
 830600
 0
 3
 3
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 189438
 0
 2
 2
 morrow_08_ASD_discovery_cases
 Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
 94
 ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
 
 
 93000
 1
 0
 1
 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
 
 
 138115
 0
 1
 1
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 118427
 2
 0
 2
 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
 
 
 15501
 1
 0
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 44608
 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
 104766
 8
 2
 10
 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
 980666
 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
 140069
 2
 2
 4
 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
 214978
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 256077
 3
 2
 5
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 ± 4.04 yrs.
 89.3% Male
 152917
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 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.
 
 0
 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.
 
 66954
 4
 1
 5
 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)
 140069
 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
 447883
 7
 3
 10
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 ± 10.12 yrs.
 48.0% Male
 152917
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 szatmari_07_ASD_discovery_cases
 
 Array SNP
  Affy 10K v2 array
 HMM
 dChip
 Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affy 500K
 dChip, CNAG, & GEMCA
 
 qPCR, qmPCR
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affy 500K
 BRLMM
 dChip
 
 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_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3
 None
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 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
 aCGH (NimbleGen 135K array)
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix Genome-Wide Human SNP Array 6
 
 Affymetrix Genotyping Console v4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affy 500K
  dChip, CNAG, & GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affy 500K
  dChip, CNAG, & GEMCA
 
 
  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
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix Genome-Wide Human SNP Array 6
 
  Affymetrix Genotyping Console v4.1
  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
  szatmari_07_ASD_discovery_cases-NAAR031-A8-3212.005
 NA
 
 ASD
 NA
 NA
 64798700
 65319400
  520700
 NCBI Build35
 Duplication
 Yes
  szatmari_07_ASD_discovery_cases-NAAR044-C3-01C06329
 NA
 
 ASD
 NA
 NA
 65120700
 65951300
  830600
 NCBI Build35
 Duplication
 Yes
  szatmari_07_ASD_discovery_cases-NAAR044-C5-01C06331
 NA
 
 ASD
 NA
 NA
 65120700
 65951300
  830600
 NCBI Build35
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-MM0299-003
 NA
 F
 ASD
 Language nonverbal, moderate repetitive behavior, hypotonia, fine motor delay
 IQ/LOF 43
 66487899
 66660300
  172401
 NCBI Build35
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-SK0023-003
 NA
 M
 ASD
 RL/EL moderate/severe delay, moderate speech unintelligibility and repetitive behavior, seizures
 IQ/LOF 82
 66470851
 66660289
  189438
 NCBI Build35
 Duplication
 Yes
  morrow_08_ASD_discovery_cases-case4504
 NA
 
 ASD
 NA
 NA
 66136000
 66229000
  93000
 
 Deletion
 No
  pinto_10_ASD_discovery_cases-case5139_3
 NA
 F
 ASD
 NA
 NA
 66487938
 66626052
  138115
 
 Duplication
 Yes
  gai_11_ASD_discovery_cases-AU0714301
 
 
 Autism
 
 
 65265526
 65383952
  118427
 
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1469302
 
 
 Autism
 
 
 66195899
 66242914
  47016
 
 Deletion
 No
  gai_11_ASD_replication_cases-AU045903
 
 
 Autism
 
 
 66402845
 66418345
  15501
 
 Deletion
 No
  nord_11_ASD_discovery_cases-256-1
 
 
 ASD
 
 
 66260893
 66305500
  44608
 
 Deletion
 No
  sanders_11_ASD_discovery_cases-11176.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 117; verbal IQ, 144
 66138679
 66147850
  9171
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11176.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 117; verbal IQ, 144
 66902048
 66911348
  9300
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11610.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 138; verbal IQ, 99
 64658501
 64741723
  83222
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11773.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 50; verbal IQ, 28
 66145880
 66250646
  104766
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12044.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
 66440555
 66464321
  23766
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12052.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
 64194927
 64206658
  11731
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12061.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
 66789230
 66791312
  2082
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12536.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 81
 64306428
 64361840
  55412
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12671.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 98; verbal IQ, 108
 65877262
 65887114
  9852
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12976.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ, 82
 66122805
 66217726
  94921
 hg18
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001742
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 65117651
 66098317
  980666
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004816
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 66024137
 66595307
  571170
 NCBI36
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case51674
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 66489321
 66626322
  137002
 
 Duplication
 No
  prasad_12_ASD_discovery_cases-case71182
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 66247958
 66332331
  84374
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-case84319
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 65997654
 66067979
  70326
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-case82369L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 66486254
 66626322
  140069
 
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-13708.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
 66380470
 66595448
  214978
 hg18
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case14258_3810
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 65334748
 65376226
  41478
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14283_4060
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 65967710
 66223787
  256077
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20147_1562001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 66180911
 66242914
  62003
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4180_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 66470222
 66591183
  120961
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5139_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 66487938
 66626052
  138114
 hg18
 Duplication
 No
  yin_16_ASD_discovery_cases-case449
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 67437089
 67590005
  152917
 GRCh37/hg19
 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
  sanders_11_ASD_discovery_controls-11135.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  66209110
  66276064
  66954
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11724.s1
  14
  F
  Control (matched sibling)
  NA
  NA
  66886043
  66896599
  10556
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12044.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  66440555
  66464321
  23766
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12052.s1
  5
  F
  Control (matched sibling)
  NA
  NA
  64194927
  64206658
  11731
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12061.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  66789230
  66791312
  2082
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902975_901251
  N/A
  N/A
  Control
  No previous psychiatric history
 
  64726445
  64808793
  82348
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902816_902816
  N/A
  N/A
  Control
  No previous psychiatric history
 
  65684431
  65747969
  63538
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901027_901027
  N/A
  N/A
  Control
  No previous psychiatric history
 
  66193151
  66303466
  110315
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900456_900456
  N/A
  N/A
  Control
  No previous psychiatric history
 
  64588009
  64638316
  50307
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB775247_1007852660
  N/A
  N/A
  Control
  No previous psychiatric history
 
  65259828
  65384389
  124561
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB644835_1007854719
  N/A
  N/A
  Control
  No previous psychiatric history
 
  66485315
  66553251
  67936
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB490963_1007853895
  N/A
  N/A
  Control
  No previous psychiatric history
 
  65715908
  66163791
  447883
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB391985_1007840230
  N/A
  N/A
  Control
  No previous psychiatric history
 
  66486721
  66626052
  139331
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB191955_1007874255
  N/A
  N/A
  Control
  No previous psychiatric history
 
  65715908
  66159375
  443467
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB170205_1007854723
  N/A
  N/A
  Control
  No previous psychiatric history
 
  64680166
  65122774
  442608
  hg18
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 szatmari_07_ASD_discovery_cases-NAAR031-A8-3212.005
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 0 genes
 
 szatmari_07_ASD_discovery_cases-NAAR044-C3-01C06329
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 MIR548X2,MIR4704,PCDH9
 
 szatmari_07_ASD_discovery_cases-NAAR044-C5-01C06331
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 MIR548X2,MIR4704,PCDH9
 
 marshall_08_ASD_discovery_cases-MM0299-003
 qPCR, qmPCR
 
 Paternal
 Multiplex
 NA
 PCDH9
 
 marshall_08_ASD_discovery_cases-SK0023-003
 qPCR, qmPCR
 
 Unknown
 Simplex
 NA
 PCDH9
 
 morrow_08_ASD_discovery_cases-case4504
 
 
 Maternal
 Multiplex
 NA
 PCDH9
 
 pinto_10_ASD_discovery_cases-case5139_3
 Agilent1M
 
 paternal
 NA
 NA
 PCDH9
 
 gai_11_ASD_discovery_cases-AU0714301
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_discovery_cases-AU1469302
 
 
 Inherited
 
 
 PCDH9 (intronic)
 
 gai_11_ASD_replication_cases-AU045903
 
 
 Inherited
 
 
 PCDH9 (intronic)
 
 nord_11_ASD_discovery_cases-256-1
 
 
 Maternal
 
 
 PCDH9
 
 sanders_11_ASD_discovery_cases-11176.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 PCDH9 intronic
 
 sanders_11_ASD_discovery_cases-11176.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11610.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11773.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PCDH9 intronic
 
 sanders_11_ASD_discovery_cases-12044.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PCDH9 intronic
 
 sanders_11_ASD_discovery_cases-12052.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12061.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12536.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12671.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PCDH9 intronic
 
 sanders_11_ASD_discovery_cases-12976.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PCDH9 intronic
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001742
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PCDH9
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004816
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 PCDH9
 
 prasad_12_ASD_discovery_cases-case51674
 
 
 Unknown
 Unknown
 Unknown
 PCDH9
 
 prasad_12_ASD_discovery_cases-case71182
 
 
 Unknown
 Unknown
 Unknown
 PCDH9
 
 prasad_12_ASD_discovery_cases-case84319
 
 
 Unknown
 Unknown
 Unknown
 PCDH9
 
 prasad_12_ASD_discovery_cases-case82369L
 
 
 Unknown
 Unknown
 Unknown
 PCDH9
 
 girirajan_13a_ASD_discovery_cases-13708.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 PCDH9
 
 engchuan_15_ASD_discovery_cases-case14258_3810
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case14283_4060
 
 
 Unknown
 
 
 PCDH9
 
 engchuan_15_ASD_discovery_cases-case20147_1562001
 
 
 Unknown
 
 
 PCDH9
 
 engchuan_15_ASD_discovery_cases-case4180_1
 
 
 Unknown
 
 
 PCDH9
 
 engchuan_15_ASD_discovery_cases-case5139_3
 
 
 Unknown
 
 
 PCDH9
 
 yin_16_ASD_discovery_cases-case449
 
 
 Unknown
 Unknown
 Unknown
 PCDH9,PCDH9-AS2,PCDH9-AS3
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11135.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PCDH9 intronic
 
sanders_11_ASD_discovery_controls-11724.s1
 
 
  Unknown
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12044.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PCDH9 intronic
 
sanders_11_ASD_discovery_controls-12052.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12061.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_902975_901251
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_902816_902816
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_901027_901027
 
 
  Unknown
 
 
  PCDH9
 
engchuan_15_ASD_discovery_controls-controlHABC_900456_900456
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB775247_1007852660
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB644835_1007854719
 
 
  Unknown
 
 
  PCDH9
 
engchuan_15_ASD_discovery_controls-controlB490963_1007853895
 
 
  Unknown
 
 
  PCDH9
 
engchuan_15_ASD_discovery_controls-controlB391985_1007840230
 
 
  Unknown
 
 
  PCDH9
 
engchuan_15_ASD_discovery_controls-controlB191955_1007874255
 
 
  Unknown
 
 
  PCDH9
 
engchuan_15_ASD_discovery_controls-controlB170205_1007854723
 
 
  Unknown
 
 
  0 genes
 

No Animal Model Data Available
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