A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597982



Internal ID16385391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:45364773..45470321hg38UCSC Ensembl
Innerchr5:45364875..45470423hg19UCSC Ensembl
Innerchr5:45400632..45506180hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38105549
hg19105549
hg18105549
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9748n54
Supporting Variantsnssv1029664
Samples
Known GenesHCN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597982
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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