Copy Number Variants / 13q14.12-q14.13

13q14.12-q14.13

Type
Deletion
Average Length
1943737
Range
44199441-46143178
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
1
Populations
1 (1 case / 0 control)
Individuals
1 (1 case / 0 control)
Summary

Summary statement in development

Reports related to 13q14.12-q14.13 (1 Reports)
# Type Title Author, Year
1 Major Strong association of de novo copy number mutations with autism. Sebat J , et al. (2007)
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13q14.12-q14.13

Description:

118 ASD patients from simplex families, 77 from multiplex families (AGRE, NIMH, University of Tampere, Fay J. Lindner Center for Autism and Developmental Disorders, Vanderbilt University, University of Chicago)

Diagnosis:

Diagnosis of ASD (Autism, broad spectrum , or Asperger syndrome) made by ADI-R & ADOS criteria, syndromic autism cases excluded

Sebat J , et al. (2007)
Cohort Size: 195

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1943737

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
Show all Case Details Show all Cohort Details

sebat_07_ASD_discovery_cases-AU010604

Clinical Profile:

NA

Cognitive Profile:

NA

Sebat J , et al. (2007)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 44199441
CNV End: 46143178
CNV Size: 1943737
Validation Description: 390K ROMA or Agilent 244K aCGH, microsatellite
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: -
Gene Content: LOC144817, NUFIP1, KIAA1704, GTF2F2, KCTD4, TPT1, SNORA31, LOC100190939, SLC25A30, COG3, FAM194B, SPERT, SIAH3, ZC3H13, CPB2, LCP1, KIAA0226L, LRCH1
Show all Control Details Show all Cohort Details

13q14.12-q14.13

Description:

Controls from families with no diagnoses of autism (AGRE, NIMH, University of Tampere, Vanderbilt University, University of Chicago, Columbia University, the Centre d’Etude du Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University) Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University

Diagnosis:

Controls

Sebat J , et al. (2007)
Cohort Size: 196

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1943737

Deletion: 0
Duplication: 0

Total CNV: 0
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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