Copy Number Variants / 13q21.31-q21.32

13q21.31-q21.32

Type
Duplication
Average Length
2450272
Range
63529600-65319400
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 13q21.31-q21.32 (2 Reports)
# Type Title Author, Year
1 Major Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Autism Genome Project Consortium , et al. (2007)
2 Major An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili... Kaminsky EB , et al. (2011)
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13q21.31-q21.32

Description:

Autism Genome Project Consortium (AGP): ASD patients from 173 families with at least two affected individuals.

Diagnosis:

Patients diagnosed with ASD based on ADI-R and ADOS

Autism Genome Project Consortium , et al. (2007)
Cohort Size: 196

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1789800

Deletion: 0
Duplication: 1

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q21.31-q21.32

Description:

Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome

Kaminsky EB , et al. (2011)
Cohort Size: 15749

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 3110744

Deletion: 0
Duplication: 1

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
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kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004206

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 61985692
CNV End: 65096436
CNV Size: 3110744
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: -

szatmari_07_ASD_discovery_cases-NAAR031-G7-3212.003

Clinical Profile:

NA

Cognitive Profile:

NA

Autism Genome Project Consortium , et al. (2007)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 63529600
CNV End: 65319400
CNV Size: 1789800
Validation Description: Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: NCBI Build35
Gene Content: -
Show all Control Details Show all Cohort Details

13q21.31-q21.32

Description:

Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Controls

Kaminsky EB , et al. (2011)
Cohort Size: 10118

Age Min: -
Age Max: -
Average: -

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

Deletion: NA
Duplication: NA

Total CNV: NA
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
Show all Control Details Show all Cohort Details

No control individuals reported.

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