13q31.2CNV Type: Deletion-Duplication
Largest CNV size: 75033 bp
Statistics Box:
Number of Reports: 7
Number of Reports: 7
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
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
275589
0
7
7
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
208826
0
1
1
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
388965
1
0
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
1200000
1
0
1
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
1311818
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
49504
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
75033
2
2
4
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
144744
6
1
7
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
24999
2
1
3
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
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)
49504
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.
75033
2
2
4
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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, 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
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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-case13117_1343
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
88912396
89187985
275590
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13119_1364
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
88777482
88836567
59086
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20184_1708001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87534417
87621170
86754
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3310_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87740625
87788387
47763
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3420_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87534417
87621170
86754
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8597_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
88239615
88272140
32526
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8633_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87506582
87584448
77867
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case611-3
5 yrs.
M
ASD
ASD, hypotonia, progressive motor impairments including difficulty walking
N/A
88713433
88922259
208827
GRCh38
Duplication
No
kushima_18_SCZ_discovery_cases-caseSCZ1802
39 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
87545067
87934031
388965
GRCh38
Deletion
N/A
leppa_16_ASD_discovery_cases-AU2157301
N/A
F
ASD
88142745
89303746
1161002
GRCh38
Deletion
No
mahjani_21_ASD_discovery_cases-case218
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
87214940
88526757
1311818
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case79785
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
88206745
88256248
49504
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-12063.p1
8.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 96; verbal IQ, 82
87546137
87621170
75034
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12499.p1
6.9
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 67; verbal IQ, 56
89155988
89187985
31998
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12722.p1
11.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 77
87889311
87933673
44363
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12851.p1
4.7
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
89155988
89187985
31998
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-control110036005551_
N/A
N/A
Control
No previous psychiatric history
88569521
88714266
144746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB313799_1007874681
N/A
N/A
Control
No previous psychiatric history
87534417
87621170
86754
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB592978_1007848517
N/A
N/A
Control
No previous psychiatric history
89149976
89198185
48210
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB828423_1007875117
N/A
N/A
Control
No previous psychiatric history
89149976
89187985
38010
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB917455_1007854021
N/A
N/A
Control
No previous psychiatric history
87550020
87621170
71151
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902637_902637
N/A
N/A
Control
No previous psychiatric history
89155988
89187985
31998
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902757_902757
N/A
N/A
Control
No previous psychiatric history
87113858
87156170
42313
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1399
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
89815375
89840239
24865
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1617
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
88260530
88285528
24999
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1931
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
89815375
89840239
24865
Unknown
Deletion
No
sanders_11_ASD_discovery_controls-11289.s1
8
M
Control (matched sibling)
NA
NA
89149976
89187985
38010
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11740.s1
9.3
M
Control (matched sibling)
NA
NA
89155988
89187985
31998
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12063.s1
11.8
F
Control (matched sibling)
NA
NA
87546137
87621170
75034
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12722.s1
6.8
M
Control (matched sibling)
NA
NA
87893292
87933673
40382
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-case13117_1343
Unknown
GRPEL2P1
engchuan_15_ASD_discovery_cases-case13119_1364
Unknown
engchuan_15_ASD_discovery_cases-case20184_1708001
Unknown
MIR4500,MIR4500HG
engchuan_15_ASD_discovery_cases-case3310_3
Unknown
engchuan_15_ASD_discovery_cases-case3420_3
Unknown
MIR4500,MIR4500HG
engchuan_15_ASD_discovery_cases-case8597_201
Unknown
engchuan_15_ASD_discovery_cases-case8633_201
Unknown
MIR4500HG
gazzellone_14_ASD_discovery_cases-case611-3
Unknown
Unknown
Unknown
kushima_18_SCZ_discovery_cases-caseSCZ1802
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
MIR4500,TET1P1,LINC00397,MIR4500HG,SLITRK5
leppa_16_ASD_discovery_cases-AU2157301
Paternal
Multiplex
Not segregated (CNV not present in affected siblings)
RPL29P29,LINC00433,LINC00560,GRPEL2P1,TRIM60P13,LINC01047,LINC00440
mahjani_21_ASD_discovery_cases-case218
Unknown
TET1P1,MIR4500HG,RPL29P29,LIN28AP2,MIR4500,UBBP5,LINC00433,LINC00397,LINC00373,SLITRK5
prasad_12_ASD_discovery_cases-case79785
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-12063.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR4500,MIR4500HG
sanders_11_ASD_discovery_cases-12499.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12722.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TET1P1
sanders_11_ASD_discovery_cases-12851.p1
Paternal
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-control110036005551_
Unknown
LINC00560
engchuan_15_ASD_discovery_controls-controlB313799_1007874681
Unknown
MIR4500,MIR4500HG
engchuan_15_ASD_discovery_controls-controlB592978_1007848517
Unknown
engchuan_15_ASD_discovery_controls-controlB828423_1007875117
Unknown
engchuan_15_ASD_discovery_controls-controlB917455_1007854021
Unknown
MIR4500,MIR4500HG
engchuan_15_ASD_discovery_controls-controlHABC_902637_902637
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902757_902757
Unknown
kanduri_15_ASD_discovery_controls-control_split1399
Unknown
Intergenic CNV: nearest genes, LINC00433(dist=617611),LINC00353(dist=360809)
kanduri_15_ASD_discovery_controls-control_split1617
Unknown
MIR4500 (non-coding RNA, exonic)
kanduri_15_ASD_discovery_controls-control_split1931
Unknown
Intergenic CNV: nearest genes, LINC00433(dist=617611),LINC00353(dist=360809)
sanders_11_ASD_discovery_controls-11289.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11740.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12063.s1
Maternal
Simplex (quad)
NA
MIR4500,MIR4500HG
sanders_11_ASD_discovery_controls-12722.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available