A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704263



Internal ID15094229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:117654161..117654705hg38UCSC Ensembl
Innerchr11:117524876..117525420hg19UCSC Ensembl
Innerchr11:117030086..117030630hg18UCSC Ensembl
Innerchr11:117030086..117030630hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38545
hg19545
hg18545
hg17545
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527773
Supporting Variants
Samples
Known GenesDSCAML1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704263
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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