A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv685425



Internal ID15075391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:168486505..168486598hg38UCSC Ensembl
Innerchr5:167913510..167913603hg19UCSC Ensembl
Innerchr5:167846088..167846181hg18UCSC Ensembl
Innerchr5:167846088..167846181hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3894
hg1994
hg1894
hg1794
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516697
Supporting Variants
Samples
Known GenesRARS
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv685425
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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