A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704481



Internal ID15441133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:70683704..70689267hg38UCSC Ensembl
Innerchr14:71150421..71155984hg19UCSC Ensembl
Innerchr14:70220174..70225737hg18UCSC Ensembl
Innerchr14:70220174..70225737hg17UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg385564
hg195564
hg185564
hg175564
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527969
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704481
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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