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

13q21.31-q21.32

Type
Duplication
Average Length
2450272
Range
64631599-66421399
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)
Show all Case Details Show all Cohort Details

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
Discovery Method:

Array SNP

Validation Method:

Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors

Platform: Affy 10K v2 array
Software: dChip
Algorithm: HMM
Geographical Ancestry: -

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
Discovery Method:

aCGH

Validation Method:

FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis

Platform: Agilent 44K or 105K
Software: Feature Extraction & DNA Analytics
Algorithm: -
Geographical Ancestry: NA
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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: 62513558
CNV End: 65624303
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: GRCh38
Gene Content: OR7E156P, RNU6-81P, PPP1R2P10, NFYAP1, LGMNP1, STARP1, LINC00448, LINC00355, LINC00376, LINC00395

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: 64057466
CNV End: 65847267
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: GRCh38
Gene Content: LGMNP1, STARP1, HNRNPA3P5, LINC00355
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
Discovery Method:

aCGH

Validation Method:

-

Platform: Agilent 44K or 105K
Software: Feature Extraction & DNA Analytics
Algorithm: -
Geographical Ancestry: NA
Show all Control Details Show all Cohort Details

No control individuals reported.

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