A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv815912



Internal ID16109868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:78602455..78610572hg38UCSC Ensembl
Innerchr13:79176590..79184707hg19UCSC Ensembl
Innerchr13:78074591..78082708hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg388118
hg198118
hg188118
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv562415
Supporting Variants
Samples
Known GenesPOU4F1, RNF219-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv815912
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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