A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597972



Internal ID16038695
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 StatusM
Merged Variants
Supporting Variantsnssv1029656
Samples
Known GenesHCN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597972
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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