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13q33.2CNV Type: Deletion-Duplication


Largest CNV size: 279116 bp

Statistics Box:
Number of Reports: 7



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
Structural variation of chromosomes in autism spectrum disorder.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
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

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 
 
 185000
 1
 1
 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
 
 
 79390
 4
 0
 4
 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
 279116
 6
 0
 6
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 53884
 0
 1
 1
 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
 518062
 1
 0
 1
 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
 69600
 2
 1
 3
 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
 75229
 2
 1
 3

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
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 87351
 6
 0
 6
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 0
 0
 0
 0
 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)
 69600
 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
 360095
 3
 4
 7

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 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
 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
 
 
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 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
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 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
 
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, & GNOSIS
 
 
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  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

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  marshall_08_ASD_discovery_cases-SK0254-003
 NA
 M
 ASD
 NA
 NA
 105172000
 105357000
  185000
 NCBI Build35
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-SK0328-003
 NA
 M
 ASD
 NA
 NA
 103896769
 103930492
  33724
 NCBI Build35
 Deletion
 Yes
  gai_11_ASD_replication_cases-AU0955301
 
 
 Autism
 
 
 105038126
 105102225
  64100
 
 Deletion
 No
  gai_11_ASD_replication_cases-AU0955303
 
 
 Autism
 
 
 105031159
 105102225
  71067
 
 Deletion
 No
  gai_11_ASD_replication_cases-AU1038301
 
 
 Autism
 
 
 105031159
 105102225
  71067
 
 Deletion
 No
  gai_11_ASD_replication_cases-AU1038302
 
 
 Autism
 
 
 105022836
 105102225
  79390
 
 Deletion
 No
  sanders_11_ASD_discovery_cases-11312.p1
 10
 M
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 109; verbal IQ, 96
 105031002
 105109257
  78255
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11753.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 128
 104949855
 104986574
  36719
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12332.p1
 12
 M
 ASD
 NA
 Full-scale IQ, 107; non-verbal IQ, 101; verbal IQ, 119
 105031002
 105109257
  78255
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12650.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 100; verbal IQ, 109
 104965934
 104974554
  8620
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12785.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
 105031002
 105114979
  83977
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13056.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
 104256988
 104536104
  279116
 hg18
 Deletion
 No
  levy_11_ASD_discovery_cases-11380.p1
 NA
 M
 ASD
 NA
 NA
 104561136
 104615019
  53884
 hg18
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000906
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 104660033
 105178095
  518062
 NCBI36
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case68687
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 105084172
 105148103
  63932
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-case68687
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 105207865
 105277464
  69600
 
 Duplication
 No
  prasad_12_ASD_discovery_cases-case82302
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 103897158
 103922357
  25200
 
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20085_1382001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 105031002
 105105350
  74348
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3102_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 105206201
 105281430
  75229
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3102_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 105084157
 105144550
  60393
 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
  sanders_11_ASD_discovery_controls-11274.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  104480270
  104487250
  6980
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11312.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  105031002
  105109257
  78255
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11721.s1
  6
  M
  Control (matched sibling)
  NA
  NA
  103981567
  103998191
  16624
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11753.s1
  15
  F
  Control (matched sibling)
  NA
  NA
  104949855
  104986574
  36719
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12438.s1
  6
  M
  Control (matched sibling)
  NA
  NA
  104222547
  104245314
  22767
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12785.s1
  16
  F
  Control (matched sibling)
  NA
  NA
  105031002
  105118353
  87351
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902876_902876
  N/A
  N/A
  Control
  No previous psychiatric history
 
  105202838
  105281711
  78873
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902876_902876
  N/A
  N/A
  Control
  No previous psychiatric history
 
  105084157
  105152573
  68416
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902828_902828
  N/A
  N/A
  Control
  No previous psychiatric history
 
  104330241
  104690336
  360095
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900072_900072
  N/A
  N/A
  Control
  No previous psychiatric history
 
  104077220
  104139864
  62644
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB803589_1007875376
  N/A
  N/A
  Control
  No previous psychiatric history
 
  103739134
  103772207
  33073
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB706383_1007844446
  N/A
  N/A
  Control
  No previous psychiatric history
 
  105334292
  105376043
  41751
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB529296_1007840921
  N/A
  N/A
  Control
  No previous psychiatric history
 
  104520372
  104570697
  50325
  hg18
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 marshall_08_ASD_discovery_cases-SK0254-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 0 genes
 
 marshall_08_ASD_discovery_cases-SK0328-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 0 genes
 
 gai_11_ASD_replication_cases-AU0955301
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU0955303
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU1038301
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU1038302
 
 
 Inherited
 
 
 0 genes
 
 sanders_11_ASD_discovery_cases-11312.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11753.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12332.p1
 
 
 Paternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12650.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12785.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13056.p1
 
 
 Paternal
 Simplex (trio)
 NA
 0 genes
 
 levy_11_ASD_discovery_cases-11380.p1
 
 
 De novo
 Simplex
 Segregated
 0 genes
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000906
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 DAOA
 
 prasad_12_ASD_discovery_cases-case68687
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case68687
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case82302
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 engchuan_15_ASD_discovery_cases-case20085_1382001
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case3102_3
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case3102_3
 
 
 Unknown
 
 
 0 genes
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11274.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11312.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11721.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11753.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12438.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12785.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_902876_902876
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_902876_902876
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_902828_902828
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_900072_900072
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB803589_1007875376
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB706383_1007844446
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB529296_1007840921
 
 
  Unknown
 
 
  0 genes
 

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