A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv815798



Internal ID16109754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:76885561..76886566hg38UCSC Ensembl
Innerchr13:77459696..77460701hg19UCSC Ensembl
Innerchr13:76357697..76358702hg18UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg381006
hg191006
hg181006
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv562372
Supporting Variants
Samples
Known GenesKCTD12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv815798
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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