9q13CNV Type: Deletion
Largest CNV size: 210227 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
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
Minor Reports
Title
Author, Year
Report Class
CNV Type
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
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
210226
1
0
1
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
210227
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
150777
1
0
1
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
507682
0
17
17
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
329953
0
1
1
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)
150777
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
507682
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
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)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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-case5261_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68359627
68569853
210227
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case5261_4
NA
F
Autism
Below average language (4%ile), no epilepsy, no dysmorphic features; 22q11 duplication syndrome
Above average nonverbal IQ (96%ile)
68359627
68569853
210227
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case46407
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
70221279
70372055
150777
Unknown
Deletion
No
yin_16_ASD_discovery_cases-case349
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
63580420
63918447
338028
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case350
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
63580420
63918447
338028
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case351
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
63580420
63918447
338028
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case352
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
63580420
63918447
338028
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case353
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
63580420
63918447
338028
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case354
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
63580420
63918447
338028
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case355
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
63580420
63918447
338028
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case356
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
63580420
63918447
338028
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case357
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
63580420
63918447
338028
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case358
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
63580420
63918447
338028
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case359
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
63580420
63918447
338028
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case360
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
63580420
63918447
338028
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case361
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
63580420
63918447
338028
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case362
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
63580420
63918447
338028
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case363
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
63580420
63918447
338028
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case364
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
63580420
63918447
338028
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case365
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
63580420
63918447
338028
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
engchuan_15_ASD_discovery_controls-controlHABC_900921_900921
N/A
N/A
Control
No previous psychiatric history
68288397
68618350
329954
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case5261_4
Unknown
TMEM252,LINC01506,PGM5
pinto_10_ASD_discovery_cases-case5261_4
Agilent1M
maternal
NA
NA
TMEM252,LINC01506,PGM5
prasad_12_ASD_discovery_cases-case46407
Unknown
Unknown
Unknown
PGM5,C9orf71
yin_16_ASD_discovery_cases-case349
Unknown
Unknown
Unknown
MYO5BP3,CDK2AP2P3,PTGER4P3,RNA5SP284,DUX4L50,MIR4477B,FRG1JP
yin_16_ASD_discovery_cases-case350
Unknown
Unknown
Unknown
MYO5BP3,CDK2AP2P3,PTGER4P3,RNA5SP284,DUX4L50,MIR4477B,FRG1JP
yin_16_ASD_discovery_cases-case351
Unknown
Unknown
Unknown
MYO5BP3,CDK2AP2P3,PTGER4P3,RNA5SP284,DUX4L50,MIR4477B,FRG1JP
yin_16_ASD_discovery_cases-case352
Unknown
Unknown
Unknown
MYO5BP3,CDK2AP2P3,PTGER4P3,RNA5SP284,DUX4L50,MIR4477B,FRG1JP
yin_16_ASD_discovery_cases-case353
Unknown
Unknown
Unknown
MYO5BP3,CDK2AP2P3,PTGER4P3,RNA5SP284,DUX4L50,MIR4477B,FRG1JP
yin_16_ASD_discovery_cases-case354
Unknown
Unknown
Unknown
MYO5BP3,CDK2AP2P3,PTGER4P3,RNA5SP284,DUX4L50,MIR4477B,FRG1JP
yin_16_ASD_discovery_cases-case355
Unknown
Unknown
Unknown
MYO5BP3,CDK2AP2P3,PTGER4P3,RNA5SP284,DUX4L50,MIR4477B,FRG1JP
yin_16_ASD_discovery_cases-case356
Unknown
Unknown
Unknown
MYO5BP3,CDK2AP2P3,PTGER4P3,RNA5SP284,DUX4L50,MIR4477B,FRG1JP
yin_16_ASD_discovery_cases-case357
Unknown
Unknown
Unknown
MYO5BP3,CDK2AP2P3,PTGER4P3,RNA5SP284,DUX4L50,MIR4477B,FRG1JP
yin_16_ASD_discovery_cases-case358
Unknown
Unknown
Unknown
MYO5BP3,CDK2AP2P3,PTGER4P3,RNA5SP284,DUX4L50,MIR4477B,FRG1JP
yin_16_ASD_discovery_cases-case359
Unknown
Unknown
Unknown
MYO5BP3,CDK2AP2P3,PTGER4P3,RNA5SP284,DUX4L50,MIR4477B,FRG1JP
yin_16_ASD_discovery_cases-case360
Unknown
Unknown
Unknown
MYO5BP3,CDK2AP2P3,PTGER4P3,RNA5SP284,DUX4L50,MIR4477B,FRG1JP
yin_16_ASD_discovery_cases-case361
Unknown
Unknown
Unknown
MYO5BP3,CDK2AP2P3,PTGER4P3,RNA5SP284,DUX4L50,MIR4477B,FRG1JP
yin_16_ASD_discovery_cases-case362
Unknown
Unknown
Unknown
MYO5BP3,CDK2AP2P3,PTGER4P3,RNA5SP284,DUX4L50,MIR4477B,FRG1JP
yin_16_ASD_discovery_cases-case363
Unknown
Unknown
Unknown
MYO5BP3,CDK2AP2P3,PTGER4P3,RNA5SP284,DUX4L50,MIR4477B,FRG1JP
yin_16_ASD_discovery_cases-case364
Unknown
Unknown
Unknown
MYO5BP3,CDK2AP2P3,PTGER4P3,RNA5SP284,DUX4L50,MIR4477B,FRG1JP
yin_16_ASD_discovery_cases-case365
Unknown
Unknown
Unknown
MYO5BP3,CDK2AP2P3,PTGER4P3,RNA5SP284,DUX4L50,MIR4477B,FRG1JP
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900921_900921
Unknown
PGM5-AS1,TMEM252,LINC01506,FOXD4L3,CBWD3,PGM5
No Animal Model Data Available