A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564886



Internal ID16005609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:61693194..61740839hg38UCSC Ensembl
Innerchr14:62159912..62207557hg19UCSC Ensembl
Innerchr14:61229665..61277310hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3847646
hg1947646
hg1847646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3721n54
Supporting Variantsnssv828211
Samples
Known GenesHIF1A, HIF1A-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564886
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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