A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699674



Internal ID15436326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:55339398..55348931hg38UCSC Ensembl
Innerchr5:54635226..54644759hg19UCSC Ensembl
Innerchr5:54670983..54680516hg18UCSC Ensembl
Innerchr5:54670983..54680516hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg389534
hg199534
hg189534
hg179534
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523841
Supporting Variants
Samples
Known GenesSKIV2L2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699674
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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