2p11.1CNV Type: Duplication
Largest CNV size: 336637 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.
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
336637
0
2
2
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
335307
0
7
7
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.
0
0
0
0
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
335307
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-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
92073910
92129081
55172
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12158.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100
91792444
92129081
336638
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case66
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
91613447
91948753
335307
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case67
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
91613447
91948753
335307
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case68
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
91613447
91948753
335307
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case69
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
91613447
91948753
335307
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case70
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
91613447
91948753
335307
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case71
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
91613447
91948753
335307
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case72
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
91613447
91948753
335307
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_cases-11680.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12158.p1
Maternal
Simplex (trio)
NA
IGKV1OR2-1,ABCD1P5,PABPC1P6,ACTR3BP2,IGKV1OR2-2,SLC9B1P2,CHEK2P3
yin_16_ASD_discovery_cases-case66
Unknown
Unknown
Unknown
RNA5SP100,GGT8P,IGKV1OR2-1,ABCD1P5,PABPC1P6,ACTR3BP2,DRD5P1,SLC9B1P2,LSP1P4
yin_16_ASD_discovery_cases-case67
Unknown
Unknown
Unknown
RNA5SP100,GGT8P,IGKV1OR2-1,ABCD1P5,PABPC1P6,ACTR3BP2,DRD5P1,SLC9B1P2,LSP1P4
yin_16_ASD_discovery_cases-case68
Unknown
Unknown
Unknown
RNA5SP100,GGT8P,IGKV1OR2-1,ABCD1P5,PABPC1P6,ACTR3BP2,DRD5P1,SLC9B1P2,LSP1P4
yin_16_ASD_discovery_cases-case69
Unknown
Unknown
Unknown
RNA5SP100,GGT8P,IGKV1OR2-1,ABCD1P5,PABPC1P6,ACTR3BP2,DRD5P1,SLC9B1P2,LSP1P4
yin_16_ASD_discovery_cases-case70
Unknown
Unknown
Unknown
RNA5SP100,GGT8P,IGKV1OR2-1,ABCD1P5,PABPC1P6,ACTR3BP2,DRD5P1,SLC9B1P2,LSP1P4
yin_16_ASD_discovery_cases-case71
Unknown
Unknown
Unknown
RNA5SP100,GGT8P,IGKV1OR2-1,ABCD1P5,PABPC1P6,ACTR3BP2,DRD5P1,SLC9B1P2,LSP1P4
yin_16_ASD_discovery_cases-case72
Unknown
Unknown
Unknown
RNA5SP100,GGT8P,IGKV1OR2-1,ABCD1P5,PABPC1P6,ACTR3BP2,DRD5P1,SLC9B1P2,LSP1P4
Controls
No Control Data Available
No Animal Model Data Available