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13q33.1-q33.2CNV Type: Deletion


Largest CNV size: 1400000 bp

Statistics Box:
Number of Reports: 2



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

References

Major Reports

Title
Author, Year
Report Class
CNV Type

No Major Reports

Minor Reports

Title
Author, Year
Report Class
CNV Type
Contribution of SHANK3 mutations to autism spectrum disorder.
Deletion
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
 moessner_07_ASD_discovery_cases
 Unrelated subjects recruited from Hospital for Sick Children, Toronto (225), and child diagnostic centers in Hamilton (100) and Newfoundland (75). 62% multiplex, 38% simplex. Possible sample overlap with Marshall et al., 2008 CNV report.
 400
 ASD
 
 
 1400000
 1
 0
 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
 1429367
 1
 0
 1

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
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 moessner_07_ASD_discovery_cases
 
 Array SNP
  Affy 500K
 
 
 
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 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

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  moessner_07_ASD_discovery_cases-case3
 NA
 M
 ASD
 Nonverbal speech,profound social impairment, restricted/repetitive behaviors, mild self-injurious behavior
 NA
 103544000
 104968000
  1400000
 NCBI Build 35
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2072_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 103545187
 104974554
  1429367
 hg18
 Deletion
 No

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 moessner_07_ASD_discovery_cases-case3
 
 
 Paternal
 Multiplex
 NA
 DAOA-AS1,DAOA
 
 engchuan_15_ASD_discovery_cases-case2072_1
 
 
 Unknown
 
 
 DAOA
 

Controls

No Control Data Available
No Animal Model Data Available
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