Copy Number Variants / 13q14.11-q14.12

13q14.11-q14.12

Type
Deletion
Average Length
2025540
Range
45289357-47314896
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 13q14.11-q14.12 (1 Reports)
# Type Title Author, Year
1 Major De novo rates and selection of large copy number variation. Itsara A , et al. (2010)
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13q14.11-q14.12

Description:

ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection

Diagnosis:

ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)

Itsara A , et al. (2010)
Cohort Size: 1330

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 2025540

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

aCGH (custom NimbleGen 12 X 135)

Platform: Illumina HumanHap550v1 and v3 SNP array
Software: Illumina GenomeStudio
Algorithm: HMM
Geographical Ancestry: -
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itsara_10_ASD_discovery_cases-HI0120

Clinical Profile:

NA

Cognitive Profile:

NA

Itsara A , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 44715221
CNV End: 46740761
CNV Size: 2025540
Validation Description: aCGH (custom NimbleGen 12 X 135)
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, 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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