Copy Number Variants / 13q33.1-q33.2

13q33.1-q33.2

Type
Deletion
Average Length
1414684
Range
104745999-106169999
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
2
Populations
2 (2 case / 0 control)
Individuals
2 (2 case / 0 control)
Summary

Summary statement in development

Reports related to 13q33.1-q33.2 (2 Reports)
# Type Title Author, Year
1 Minor Contribution of SHANK3 mutations to autism spectrum disorder. Moessner R , et al. (2007)
2 Minor Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
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13q33.1-q33.2

Description:

Samples from the Autism Genome Project (AGP)

Diagnosis:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Engchuan W , et al. (2015)
Cohort Size: 1892

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1429367

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian

13q33.1-q33.2

Description:

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.

Diagnosis:

ASD

Moessner R , et al. (2007)
Cohort Size: 400

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1400000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

-

Platform: Affy 500K
Software: -
Algorithm: -
Geographical Ancestry: -
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moessner_07_ASD_discovery_cases-case3

Clinical Profile:

Nonverbal speech,profound social impairment, restricted/repetitive behaviors, mild self-injurious behavior

Cognitive Profile:

NA

Moessner R , et al. (2007)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 104093649
CNV End: 105517650
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RPL7P45, DAOA-AS1, DAOA

engchuan_15_ASD_discovery_cases-case2072_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 104094836
CNV End: 105524204
CNV Size: 1429367
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL7P45, DAOA-AS1, DAOA
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13q33.1-q33.2

Description:

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)

Diagnosis:

Controls; subjects had no previous psychiatric history

Engchuan W , et al. (2015)
Cohort Size: 2342

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian
Show all Control Details Show all Cohort Details

No control individuals reported.

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