1q12-q21.1CNV Type: Duplication
Largest CNV size: 954502 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
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
Performance of case-control rare copy number variation annotation in classification of 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
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
1302418
0
2
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
954502
0
3
3
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
1437969
0
2
2
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
1189727
0
3
3
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
1058714
1
1
2
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
1437969
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
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
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
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
engchuan_15_ASD_discovery_cases-case5117_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
141500438
142511932
1011494
NCBI36
Duplication
No
engchuan_15_ASD_discovery_cases-case5510_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
141500438
142802856
1302418
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
141786422
142649580
863158
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-12478.p1
4.8
M
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 68
141500438
142454940
954502
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-12972.p1
10.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
142378626
142454940
76314
NCBI36
Duplication
No
yin_16_ASD_discovery_cases-case30
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
142569069
144007037
1437969
GRCh37
Duplication
No
yin_16_ASD_discovery_cases-case31
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
142569069
144007037
1437969
GRCh37
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_900013_900013
N/A
N/A
Control
No previous psychiatric history
141500438
142514099
1013661
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900561_900561
N/A
N/A
Control
No previous psychiatric history
141500438
142690165
1189727
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900985_900985
N/A
N/A
Control
No previous psychiatric history
141500438
142514099
1013661
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-11444.s1
19.5
F
Control (matched sibling)
NA
NA
141500438
142559152
1058714
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-11475.s1
5.5
F
Control (matched sibling)
NA
NA
142337857
142454940
117083
NCBI36
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-case5117_4
Unknown
FLJ39739;LOC100130000;LOC100286793
engchuan_15_ASD_discovery_cases-case5510_3
Unknown
FLJ39739;LOC100130000;LOC100286793;PPIAL4G;SRGAP2P2
sanders_11_ASD_discovery_cases-11049.p1
Unknown
Simplex (quad-proband matched)
Segregated
PPIAL4G
sanders_11_ASD_discovery_cases-12478.p1
Unknown
Simplex (quad-proband matched)
Not segregated
0 genes
sanders_11_ASD_discovery_cases-12972.p1
Both parents
Simplex (quad-proband matched)
Segregated
0 genes
yin_16_ASD_discovery_cases-case30
Unknown
Unknown
Unknown
DQ579288,DQ586768,DQ583161,DQ590589,ANKRD20A12P,BC071797,DQ590126,DQ592442,BC053679,BC029473,AK056396,CR936796,DQ587539,DQ596206,BC070106,TRNA_Asn,DQ571491,LOC100130000,LINC00875,PPIAL4G,FAM72D,SRGAP2B
yin_16_ASD_discovery_cases-case31
Unknown
Unknown
Unknown
DQ579288,DQ586768,DQ583161,DQ590589,ANKRD20A12P,BC071797,DQ590126,DQ592442,BC053679,BC029473,AK056396,CR936796,DQ587539,DQ596206,BC070106,TRNA_Asn,DQ571491,LOC100130000,LINC00875,PPIAL4G,FAM72D,SRGAP2B
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900013_900013
Unknown
FLJ39739;LOC100130000;LOC100286793
engchuan_15_ASD_discovery_controls-controlHABC_900561_900561
Unknown
FLJ39739;LOC100130000;LOC100286793;PPIAL4G;SRGAP2P2
engchuan_15_ASD_discovery_controls-controlHABC_900985_900985
Unknown
FLJ39739;LOC100130000;LOC100286793
sanders_11_ASD_discovery_controls-11444.s1
Unknown
Simplex (quad)
NA
PPIAL4G
sanders_11_ASD_discovery_controls-11475.s1
Unknown
Simplex (quad)
NA
0 genes
No Animal Model Data Available