9q21.12CNV Type: Deletion-Duplication
Largest CNV size: 7723 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
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.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
145626
1
0
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
82631
1
0
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
7723
1
22
23
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
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)
82631
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.
2258
2
16
18
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
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
krumm_15_ASD_discovery_cases-case13077.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
70535952
70681578
145627
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case71182
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
72726673
72809303
82631
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11025.p1
4.6
F
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11197.p1
10.1
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 110
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11266.p1
4.3
F
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 78
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11267.p1
13.2
F
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 79
71287232
71294955
7724
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11355.p1
8.8
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 73; verbal IQ, 67
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11561.p1
5.9
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 103; verbal IQ, 114
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11843.p1
14.3
F
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 117
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11855.p1
14.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 94; verbal IQ, 48
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12061.p1
7
F
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12068.p1
12.5
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 26
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12154.p1
4
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 87
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12215.p1
4.5
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 113; verbal IQ, 96
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12350.p1
11.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 102; verbal IQ, 61
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12414.p1
4.4
M
ASD
NA
Full-scale IQ, 116; non-verbal IQ, 129; verbal IQ, 90
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12445.p1
10.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 91
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12568.p1
14.6
M
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 75; verbal IQ, 26
71152109
71154367
2259
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12613.p1
12.6
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 78; verbal IQ, 79
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12647.p1
6.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 81
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12722.p1
11.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 77
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12742.p1
4.8
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 106
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13010.p1
7.9
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 122; verbal IQ, 99
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13080.p1
8.3
F
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 104; verbal IQ, 121
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13153.p1
9.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59
71292709
71294955
2247
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
sanders_11_ASD_discovery_controls-11124.s1
13.3
M
Control (matched sibling)
NA
NA
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11266.s1
5.8
F
Control (matched sibling)
NA
NA
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11355.s1
5.4
F
Control (matched sibling)
NA
NA
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11711.s1
7
M
Control (matched sibling)
NA
NA
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11843.s1
16.9
F
Control (matched sibling)
NA
NA
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11855.s1
15.9
F
Control (matched sibling)
NA
NA
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11860.s1
14.1
M
Control (matched sibling)
NA
NA
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11981.s1
8.6
F
Control (matched sibling)
NA
NA
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12061.s1
8.4
M
Control (matched sibling)
NA
NA
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12154.s1
9.1
F
Control (matched sibling)
NA
NA
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12175.s1
6.7
F
Control (matched sibling)
NA
NA
71152109
71154367
2259
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12568.s1
15.7
F
Control (matched sibling)
NA
NA
71152109
71154367
2259
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12613.s1
12.6
M
Control (matched sibling)
NA
NA
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12722.s1
6.8
M
Control (matched sibling)
NA
NA
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12865.s1
5.8
M
Control (matched sibling)
NA
NA
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13010.s1
5.8
M
Control (matched sibling)
NA
NA
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13080.s1
6.8
F
Control (matched sibling)
NA
NA
71292709
71294955
2247
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13153.s1
11.8
M
Control (matched sibling)
NA
NA
71292709
71294955
2247
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_15_ASD_discovery_cases-case13077.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
RN7SL726P,TRPM3
prasad_12_ASD_discovery_cases-case71182
Unknown
Unknown
Unknown
TRPM3
sanders_11_ASD_discovery_cases-11025.p1
Maternal
Simplex (trio)
NA
TRPM3
sanders_11_ASD_discovery_cases-11197.p1
Both parents
Simplex (quad-proband matched)
Segregated
TRPM3
sanders_11_ASD_discovery_cases-11266.p1
Both parents
Simplex (quad-proband matched)
Not segregated
TRPM3
sanders_11_ASD_discovery_cases-11267.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TRPM3
sanders_11_ASD_discovery_cases-11355.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TRPM3
sanders_11_ASD_discovery_cases-11561.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TRPM3
sanders_11_ASD_discovery_cases-11843.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TRPM3
sanders_11_ASD_discovery_cases-11855.p1
Both parents
Simplex (quad-proband matched)
Not segregated
TRPM3
sanders_11_ASD_discovery_cases-12061.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TRPM3
sanders_11_ASD_discovery_cases-12068.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TRPM3
sanders_11_ASD_discovery_cases-12154.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TRPM3
sanders_11_ASD_discovery_cases-12215.p1
Paternal
Simplex (trio)
NA
TRPM3
sanders_11_ASD_discovery_cases-12350.p1
Maternal
Simplex (trio)
NA
TRPM3
sanders_11_ASD_discovery_cases-12414.p1
Paternal
Simplex (trio)
NA
TRPM3
sanders_11_ASD_discovery_cases-12445.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TRPM3
sanders_11_ASD_discovery_cases-12568.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TRPM3
sanders_11_ASD_discovery_cases-12613.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TRPM3
sanders_11_ASD_discovery_cases-12647.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TRPM3
sanders_11_ASD_discovery_cases-12722.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TRPM3
sanders_11_ASD_discovery_cases-12742.p1
Paternal
Simplex (trio)
NA
TRPM3
sanders_11_ASD_discovery_cases-13010.p1
Both parents
Simplex (quad-proband matched)
Not segregated
TRPM3
sanders_11_ASD_discovery_cases-13080.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TRPM3
sanders_11_ASD_discovery_cases-13153.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TRPM3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11124.s1
Paternal
Simplex (quad)
NA
TRPM3
sanders_11_ASD_discovery_controls-11266.s1
Both parents
Simplex (quad)
NA
TRPM3
sanders_11_ASD_discovery_controls-11355.s1
Paternal
Simplex (quad)
NA
TRPM3
sanders_11_ASD_discovery_controls-11711.s1
Both parents
Simplex (quad)
NA
TRPM3
sanders_11_ASD_discovery_controls-11843.s1
Paternal
Simplex (quad)
NA
TRPM3
sanders_11_ASD_discovery_controls-11855.s1
Both parents
Simplex (quad)
NA
TRPM3
sanders_11_ASD_discovery_controls-11860.s1
Both parents
Simplex (quad)
NA
TRPM3
sanders_11_ASD_discovery_controls-11981.s1
Maternal
Simplex (quad)
NA
TRPM3
sanders_11_ASD_discovery_controls-12061.s1
Maternal
Simplex (quad)
NA
TRPM3
sanders_11_ASD_discovery_controls-12154.s1
Paternal
Simplex (quad)
NA
TRPM3
sanders_11_ASD_discovery_controls-12175.s1
Paternal
Simplex (quad)
NA
TRPM3
sanders_11_ASD_discovery_controls-12568.s1
Maternal
Simplex (quad)
NA
TRPM3
sanders_11_ASD_discovery_controls-12613.s1
Maternal
Simplex (quad)
NA
TRPM3
sanders_11_ASD_discovery_controls-12722.s1
Paternal
Simplex (quad)
NA
TRPM3
sanders_11_ASD_discovery_controls-12865.s1
Both parents
Simplex (quad)
NA
TRPM3
sanders_11_ASD_discovery_controls-13010.s1
Both parents
Simplex (quad)
NA
TRPM3
sanders_11_ASD_discovery_controls-13080.s1
Maternal
Simplex (quad)
NA
TRPM3
sanders_11_ASD_discovery_controls-13153.s1
Maternal
Simplex (quad)
NA
TRPM3
No Animal Model Data Available