A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520976



Internal ID15448269
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697718
Samples
Known GenesELFN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520976
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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