A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697718



Internal ID15434370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:1711161..1717600hg38UCSC Ensembl
Innerchr7:1750797..1757236hg19UCSC Ensembl
Innerchr7:1717323..1723762hg18UCSC Ensembl
Innerchr7:1524038..1530477hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg386440
hg196440
hg186440
hg176440
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520976
Supporting Variants
Samples
Known GenesELFN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697718
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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