13q11CNV Type: Deletion-Duplication
Largest CNV size: 200179 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
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
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
200179
3
18
21
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
23251
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
214565
1
12
13
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
23251
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
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_cases-11037.p1
9.3
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 86; verbal IQ, 83
97194
119596
22403
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11048.p1
6.5
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
58982
97215
38234
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11152.p1
6.7
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 61; verbal IQ, 57
58982
152194
93213
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11312.p1
10
M
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 109; verbal IQ, 96
97194
152194
55001
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
58982
152194
93213
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11463.p1
7.6
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 98; verbal IQ, 79
58982
152194
93213
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11506.p1
7
F
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 82
18636286
18667202
30917
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11644.p1
17
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 106; verbal IQ, 112
18496077
18503037
6961
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
18448253
18648432
200180
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11710.p1
6.1
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
18624630
18698350
73721
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11828.p1
5.5
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 89; verbal IQ, 56
18636286
18681715
45430
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11935.p1
5.3
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 90; verbal IQ, 77
18501240
18548632
47393
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12103.p1
6.6
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31
1
97215
97215
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12243.p1
12
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 107
18636286
18698350
62065
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12349.p1
4.9
M
ASD
NA
Full-scale IQ, 81; non-verbal IQ, 81; verbal IQ, 90
18636286
18681715
45430
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12617.p1
10.8
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 112; verbal IQ, 106
48720
75866
27147
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12961.p1
4.4
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 125; verbal IQ, 93
44895
58982
14088
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12997.p1
9.6
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
48720
152194
103475
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13076.p1
6.7
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
71734
119596
47863
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13183.p1
5.8
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
71734
129889
58156
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13195.p1
8.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 88; verbal IQ, 63
58982
129889
70908
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case443
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
123136
146386
23251
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-11079.s1
13.4
F
Control (matched sibling)
NA
NA
58982
97215
38234
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11089.s1
9.3
M
Control (matched sibling)
NA
NA
53315
152194
98880
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11366.s1
10.8
M
Control (matched sibling)
NA
NA
18589694
18698350
108657
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11498.s1
5.9
M
Control (matched sibling)
NA
NA
1
152194
152194
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11561.s1
8.9
M
Control (matched sibling)
NA
NA
1
128607
128607
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11644.s1
14.2
F
Control (matched sibling)
NA
NA
18496077
18503037
6961
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11691.s1
16.3
M
Control (matched sibling)
NA
NA
48720
152194
103475
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11828.s1
5.5
F
Control (matched sibling)
NA
NA
18601139
18698350
97212
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11942.s1
14.6
M
Control (matched sibling)
NA
NA
58982
150589
91608
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12044.s1
8.8
M
Control (matched sibling)
NA
NA
71734
129889
58156
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12243.s1
13.5
M
Control (matched sibling)
NA
NA
18624630
18698350
73721
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13050.s1
6.9
M
Control (matched sibling)
NA
NA
18612778
18698350
85573
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13195.s1
10.1
M
Control (matched sibling)
NA
NA
71734
128607
56874
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_cases-11037.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11048.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11152.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11312.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11355.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11463.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11506.p1
Paternal
Simplex (trio)
NA
FEM1AP4
sanders_11_ASD_discovery_cases-11644.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11680.p1
Unknown
Simplex (trio)
NA
BNIP3P7,LONRF2P2,LINC00388,LINC00349,ZNF962P
sanders_11_ASD_discovery_cases-11710.p1
Maternal
Simplex (trio)
NA
FEM1AP4,LINC00387,TERF1P5,FAM207BP
sanders_11_ASD_discovery_cases-11828.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FEM1AP4,LINC00387,TERF1P5
sanders_11_ASD_discovery_cases-11935.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC00349
sanders_11_ASD_discovery_cases-12103.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12243.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FEM1AP4,LINC00387,TERF1P5,FAM207BP
sanders_11_ASD_discovery_cases-12349.p1
Paternal
Simplex (trio)
NA
FEM1AP4,LINC00387,TERF1P5
sanders_11_ASD_discovery_cases-12617.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12961.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12997.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13076.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13183.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13195.p1
Both parents
Simplex (quad-proband matched)
Not segregated
yin_16_ASD_discovery_cases-case443
Unknown
Unknown
Unknown
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11079.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11089.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11366.s1
Paternal
Simplex (quad)
NA
LONRF2P2,LINC00388,FEM1AP4,LINC00387,TERF1P5,FAM207BP
sanders_11_ASD_discovery_controls-11498.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11561.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11644.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11691.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11828.s1
Maternal
Simplex (quad)
NA
LONRF2P2,LINC00388,FEM1AP4,LINC00387,TERF1P5,FAM207BP
sanders_11_ASD_discovery_controls-11942.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12044.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12243.s1
Maternal
Simplex (quad)
NA
FEM1AP4,LINC00387,TERF1P5,FAM207BP
sanders_11_ASD_discovery_controls-13050.s1
Unknown
Simplex (quad)
NA
FEM1AP4,LINC00387,TERF1P5,FAM207BP
sanders_11_ASD_discovery_controls-13195.s1
Both parents
Simplex (quad)
NA
No Animal Model Data Available