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
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

Platform: Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
Software: GenomeStudio, CNVision
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: N/A
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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: 44689549
CNV End: 46740761
CNV Size: 2051000
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: LINC00330, RN7SL49P, RN7SKP3, RN7SKP4, KCTD4, SNORA31, RCN1P2, SLC25A30-AS1, PPIAP25, RNA5SP27, TIMM9P3, COX4I1P2, AKR1B1P4, RN7SL288P, RN7SKP5, FAM206BP, LINC00563, RNU2-6P, RNU6-68P, PPP1R2P4, OR7E101P, COX17P1, FKBP1AP3, GPALPP1, TPT1, SLC25A30, LINC01055, SPERT, SIAH3, CPB2-AS1, CPB2, LINC01198, LINC00407, NUFIP1, GTF2F2, TPT1-AS1, COG3, ERICH6B, ZC3H13, LRRC63, RUBCNL, LRCH1, LCP1
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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