A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564181



Internal ID16004904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31489555..31894774hg38UCSC Ensembl
Innerchr14:31958761..32363980hg19UCSC Ensembl
Innerchr14:31028512..31433731hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38405220
hg19405220
hg18405220
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3607n54
Supporting Variantsnssv825144
Samples
Known GenesNUBPL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564181
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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