A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175934



Internal ID15506652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:46044155..46739284hg38UCSC Ensembl
Innerchr13:46618290..47313419hg19UCSC Ensembl
Innerchr13:45516291..46211420hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38695130
hg19695130
hg18695130
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv561581
Supporting Variants
Samples1780854101_A
Known GenesCPB2, CPB2-AS1, KIAA0226L, LCP1, LINC00563, LRCH1, LRRC63, ZC3H13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175934
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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