Copy Number Variants / 13q14.12-q14.2

13q14.12-q14.2

Type
Deletion
Average Length
2051000
Range
45263685-47314896
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
1
Populations
1 (1 case / 0 control)
Individuals
1 (1 case / 0 control)
Summary

A de novo deletion in the 13q14.12-q14.2 region was identified in an ASD proband from a multiplex family (Leppa et al., 2016).

Reports related to 13q14.12-q14.2 (1 Reports)
# Type Title Author, Year
1 Major Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. Leppa VM , et al. (2016)
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13q14.12-q14.2

Description:

Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)

Diagnosis:

Diagnosis according to ADOS and ADI-R

Leppa VM , et al. (2016)
Cohort Size: 1764

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 2051000

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
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leppa_16_ASD_discovery_cases-AU010604

Clinical Profile:

-

Cognitive Profile:

-

Leppa VM , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 45263685
CNV End: 47314896
CNV Size: 2051000
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh37/hg19
Gene Content: NUFIP1, GPALPP1, GTF2F2, KCTD4, TPT1, SLC25A30, COG3, ERICH6B, SPERT, SIAH3, ZC3H13, CPB2, LCP1, LRRC63, RUBCNL, LRCH1
Show all Control Details Show all Cohort Details

No control populations reported.

Show all Control Details Show all Cohort Details

No control individuals reported.

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