9p13.1-p12CNV Type: Deletion-Duplication
Largest CNV size: 2130000 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
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
584
Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
N/A
N/A
1205401
0
1
1
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
1552873
2
0
2
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
2130000
1
1
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
2056765
4
2
6
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Saudi Arabia
Array SNP
Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
HMM
Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
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
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case08DG00521
N/A
M
Intellectual disability
Intellectual disability, craniosynostosis, right coloboma, postaxial polydactyly, syndactyly (between right middle and ring finger). Consanguineous parents. Both parents not tested.
Intellectual disability
40764741
41970142
1205401
GRCh37
Duplication
No
engchuan_15_ASD_discovery_cases-case14266_3890
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
39825057
40838459
1013402
NCBI36
Deletion
No
engchuan_15_ASD_discovery_cases-case6009_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38994140
40547013
1552873
NCBI36
Deletion
No
pinto_10_ASD_discovery_cases-case5015_4
NA
M
ASD
NA
NA
38781694
40907166
2130000
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case5426_3
NA
M
ASD
NA
NA
38994140
40547013
1550000
Unknown
Deletion
Yes
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-controlB746728_1007875969
N/A
N/A
Control
No previous psychiatric history
38905170
40638501
1733331
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlB752185_0067942604
N/A
N/A
Control
No previous psychiatric history
38940545
40547013
1606468
NCBI36
Deletion
No
engchuan_15_ASD_discovery_controls-controlB855640_1007853300
N/A
N/A
Control
No previous psychiatric history
38781694
40838459
2056765
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlB911292_1007845352
N/A
N/A
Control
No previous psychiatric history
38955833
40652107
1696274
NCBI36
Deletion
No
engchuan_15_ASD_discovery_controls-controlB985796_1007842488
N/A
N/A
Control
No previous psychiatric history
39708311
40907166
1198855
NCBI36
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901262_901262
N/A
N/A
Control
No previous psychiatric history
39035077
40659398
1624321
NCBI36
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case08DG00521
Unknown
Unknown
Unknown
ZNF658,SPATA31A5,SPATA31A7
engchuan_15_ASD_discovery_cases-case14266_3890
Unknown
FAM74A1;FAM74A3;FAM75A1;FAM75A2;FAM75A3;ZNF658
engchuan_15_ASD_discovery_cases-case6009_4
Unknown
CNTNAP3;FAM74A1;FAM75A1;FAM75A2;LOC653501;ZNF658B
pinto_10_ASD_discovery_cases-case5015_4
Agilent1M
maternal
NA
NA
FAM75A1,FAM75A2,FAM75A3,LOC653501,FAM74A1,FAM74A3,CNTNAP3,ZNF658
pinto_10_ASD_discovery_cases-case5426_3
Agilent1M
paternal
NA
NA
FAM75A1,CNTNAP3,FAM74A1,FAM75A2,LOC653501
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB746728_1007875969
Unknown
CNTNAP3;FAM74A1;FAM75A1;FAM75A2;LOC653501;ZNF658B
engchuan_15_ASD_discovery_controls-controlB752185_0067942604
Unknown
CNTNAP3;FAM74A1;FAM75A1;FAM75A2;LOC653501;ZNF658B
engchuan_15_ASD_discovery_controls-controlB855640_1007853300
Unknown
CNTNAP3;FAM74A1;FAM74A3;FAM75A1;FAM75A2;FAM75A3;LOC653501;ZNF658;ZNF658B
engchuan_15_ASD_discovery_controls-controlB911292_1007845352
Unknown
CNTNAP3;FAM74A1;FAM75A1;FAM75A2;LOC653501;ZNF658B
engchuan_15_ASD_discovery_controls-controlB985796_1007842488
Unknown
FAM74A1;FAM74A3;FAM75A1;FAM75A2;FAM75A3;ZNF658
engchuan_15_ASD_discovery_controls-controlHABC_901262_901262
Unknown
CNTNAP3;FAM74A1;FAM75A1;FAM75A2;LOC653501;ZNF658B
No Animal Model Data Available