12q21.32CNV Type: Deletion-Duplication
Largest CNV size: 259857 bp
Statistics Box:
Number of Reports: 6
Number of Reports: 6
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
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-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
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
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
55703
2
2
4
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
394755
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
10945
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
68371
2
0
2
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
259857
10
1
11
yuan_23_ASD_discovery_cases
ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
369
Cases diagnosed with ASD using DSM-IV.
NA
NA
58706
0
1
1
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
453972
0
7
7
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
6125
0
1
1
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)
68371
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.
98701
11
0
11
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
yuan_23_ASD_discovery_cases
China
WES
Illumina HiSeq
NA
GATK v.4.2.0.0.
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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-case20151_1636001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87188670
87234891
46222
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2299_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87215109
87270812
55704
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4518_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86582460
86626600
44141
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4518_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86981207
87036432
55226
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU062905
Autism
85475471
85870225
394755
Unknown
Deletion
No
krumm_15_ASD_discovery_cases-case13199.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
88083030
88093975
10946
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case134846
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
86286222
86354592
68371
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case78391
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
85393137
85406774
13638
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
88106775
88130475
23701
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11002.p1
7.7
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 111; verbal IQ, 80
86800666
86855677
55012
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11390.p1
8.3
F
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 77; verbal IQ, 57
86285382
86545240
259859
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11733.p1
5.5
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
88116665
88130475
13811
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12081.p1
12.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 87; verbal IQ, 92
87469156
87475573
6418
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12201.p1
13.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 131; verbal IQ, 116
87106240
87151118
44879
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12375.p1
15.9
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 93; verbal IQ, 85
87469156
87475573
6418
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12695.p1
12.3
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 56; verbal IQ, 35
87177815
87188670
10856
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12739.p1
6.8
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 112; verbal IQ, 77
87740979
87761241
20263
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12829.p1
11.4
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 134; verbal IQ, 117
86923242
86994245
71004
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13016.p1
5.5
M
Aspergers
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
87503328
87543172
39845
GRCh38
Deletion
No
yuan_23_ASD_discovery_cases-qma00852d000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
88053403
88112108
58706
GRCh38
Duplication
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-controlHABC_900482_900482
N/A
N/A
Control
No previous psychiatric history
86582460
87036432
453973
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901110_901110
N/A
N/A
Control
No previous psychiatric history
86582460
86626600
44141
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901110_901110
N/A
N/A
Control
No previous psychiatric history
86977784
87036432
58649
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901174_901174
N/A
N/A
Control
No previous psychiatric history
86582460
86626600
44141
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901174_901174
N/A
N/A
Control
No previous psychiatric history
86977784
87036432
58649
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902641_902641
N/A
N/A
Control
No previous psychiatric history
86582460
86626600
44141
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902641_902641
N/A
N/A
Control
No previous psychiatric history
86977784
87026862
49079
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control11954.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
87980293
87986418
6126
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11551.s1
12.8
F
Control (matched sibling)
NA
NA
86762936
86861637
98702
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12201.s1
12.1
M
Control (matched sibling)
NA
NA
87106240
87151118
44879
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12334.s1
4.2
M
Control (matched sibling)
NA
NA
87469156
87475573
6418
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12377.s1
20.6
F
Control (matched sibling)
NA
NA
87622858
87679147
56290
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12403.s1
9.7
F
Control (matched sibling)
NA
NA
87584726
87638355
53630
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12701.s1
10.4
M
Control (matched sibling)
NA
NA
86923242
87003741
80500
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12829.s1
14.1
M
Control (matched sibling)
NA
NA
86923242
87003741
80500
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12924.s1
7.9
F
Control (matched sibling)
NA
NA
87740979
87750186
9208
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13016.s1
9.5
F
Control (matched sibling)
NA
NA
87503328
87543172
39845
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13166.s1
5.6
M
Control (matched sibling)
NA
NA
87594046
87638355
44310
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13301.s1
12.3
M
Control (matched sibling)
NA
NA
87469156
87475573
6418
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case20151_1636001
Unknown
engchuan_15_ASD_discovery_cases-case2299_1
Unknown
engchuan_15_ASD_discovery_cases-case4518_1
Unknown
MGAT4C
engchuan_15_ASD_discovery_cases-case4518_1
Unknown
gai_11_ASD_replication_cases-AU062905
Inherited
MGAT4C
krumm_15_ASD_discovery_cases-case13199.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
CEP290
prasad_12_ASD_discovery_cases-case134846
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case78391
Unknown
Unknown
Unknown
MGAT4C
sanders_11_ASD_discovery_cases-11001.p1
Unknown
Simplex (trio)
NA
CEP290
sanders_11_ASD_discovery_cases-11002.p1
Unknown
Simplex (quad-proband matched)
Segregated
MGAT4C
sanders_11_ASD_discovery_cases-11390.p1
Unknown
Simplex (quad-proband matched)
Segregated
MGAT4C
sanders_11_ASD_discovery_cases-11733.p1
Unknown
Simplex (trio)
NA
CEP290
sanders_11_ASD_discovery_cases-12081.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12201.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12375.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12695.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12739.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CYCSP30
sanders_11_ASD_discovery_cases-12829.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13016.p1
Maternal
Simplex (quad-proband matched)
Not segregated
yuan_23_ASD_discovery_cases-qma00852d000
De novo
CEP290
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900482_900482
Unknown
MGAT4C
engchuan_15_ASD_discovery_controls-controlHABC_901110_901110
Unknown
MGAT4C
engchuan_15_ASD_discovery_controls-controlHABC_901110_901110
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901174_901174
Unknown
MGAT4C
engchuan_15_ASD_discovery_controls-controlHABC_901174_901174
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902641_902641
Unknown
MGAT4C
engchuan_15_ASD_discovery_controls-controlHABC_902641_902641
Unknown
krumm_15_ASD_discovery_controls-control11954.s1
Illumina 1MDuo
Paternal
C12orf50
sanders_11_ASD_discovery_controls-11551.s1
Unknown
Simplex (quad)
NA
MGAT4C
sanders_11_ASD_discovery_controls-12201.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12334.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12377.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12403.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12701.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12829.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12924.s1
Maternal
Simplex (quad)
NA
CYCSP30
sanders_11_ASD_discovery_controls-13016.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13166.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13301.s1
Unknown
Simplex (quad)
NA
No Animal Model Data Available