A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1029656



Internal ID15536156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:45246993..45303570hg38UCSC Ensembl
Innerchr5:45247095..45303672hg19UCSC Ensembl
Innerchr5:45282852..45339429hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3856578
hg1956578
hg1856578
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv597972
Supporting Variants
Samples
Known GenesHCN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1029656
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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