22q13.32CNV Type: Deletion-Duplication
Largest CNV size: 47019 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Summary statement in development
Additional Locus Information
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
No Animal Model Data Available