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22q13.32CNV Type: Deletion-Duplication


Largest CNV size: 47019 bp

Statistics Box:
Number of Reports: 3



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
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
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
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
 407798
 0
 8
 8
 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
 93028
 0
 1
 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
 47019
 4
 2
 6

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
 51163
 0
 2
 2
 girirajan_13a_ASD_discovery_controls1
 NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
 580
 Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
 NA
 NA
 0
 0
 0
 0
 girirajan_13a_ASD_discovery_controls2
 Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
 2090
 Control
 NA
 NA
 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.
 
 47019
 1
 1
 2

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 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)
 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
  girirajan_13a_ASD_discovery_controls1
  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
  girirajan_13a_ASD_discovery_controls2
  NA
  Solid phase hybridization
  Illumina 1.2M SNP microarray
 
 
  None
  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-case14311_4280
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49287030
 49416027
  128998
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14345_4590
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 48998499
 49408460
  409962
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20178_1701001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 48256185
 48424211
  168027
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20178_1701001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 48436379
 48477573
  41195
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4249_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 48962763
 49009782
  47020
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4344_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 48962763
 49009782
  47020
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6164_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 48962763
 49009782
  47020
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8668_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 48958619
 49003712
  45094
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-AU1678301
 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
 48357103
 48450131
  93029
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11004.p1
 15.8
 M
 ASD
 NA
 Full-scale IQ, 59; non-verbal IQ, 74; verbal IQ, 31
 48962763
 49009782
  47020
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11502.p1
 16.1
 F
 Autism
 NA
 Full-scale IQ, 154; non-verbal IQ, 148; verbal IQ, 145
 48811671
 48825189
  13519
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11839.p1
 4
 M
 ASD
 NA
 Full-scale IQ, 100; non-verbal IQ, 101; verbal IQ, 99
 48407531
 48411215
  3685
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11905.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 71; verbal IQ, 34
 48607342
 48607517
  176
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12189.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 87; verbal IQ, 78
 48942549
 48975351
  32803
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12370.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 127; verbal IQ, 123
 49150034
 49156866
  6833
 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-controlB814504_1007872259
  N/A
  N/A
  Control
  No previous psychiatric history
 
  48962763
  49009782
  47020
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900921_900921
  N/A
  N/A
  Control
  No previous psychiatric history
 
  48958619
  49009782
  51164
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11502.s1
  13.2
  M
  Control (matched sibling)
  NA
  NA
  48811671
  48819334
  7664
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12523.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  48962763
  49009782
  47020
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 engchuan_15_ASD_discovery_cases-case14311_4280
 
 
 Unknown
 
 
 C22orf34
 
 engchuan_15_ASD_discovery_cases-case14345_4590
 
 
 Unknown
 
 
 RPL35P8
 
 engchuan_15_ASD_discovery_cases-case20178_1701001
 
 
 Unknown
 
 
 MIR3201
 
 engchuan_15_ASD_discovery_cases-case20178_1701001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4249_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4344_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6164_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8668_201
 
 
 Unknown
 
 
 
 
 girirajan_13a_ASD_discovery_cases-AU1678301
 aCGH (NimbleGen 135K array)
 
 Maternal
 Multiplex
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11004.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11502.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FAM19A5
 
 sanders_11_ASD_discovery_cases-11839.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11905.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 FAM19A5
 
 sanders_11_ASD_discovery_cases-12189.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12370.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB814504_1007872259
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900921_900921
 
 
  Unknown
 
 
 
 
sanders_11_ASD_discovery_controls-11502.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FAM19A5
 
sanders_11_ASD_discovery_controls-12523.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 

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