A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv872339



Internal ID15819609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46003698..46172742hg38UCSC Ensembl
Innerchr17:44081064..44250108hg19UCSC Ensembl
Innerchr17:41436901..41605885hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38169045
hg19169045
hg18168985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575142
Supporting Variants
Samples
Known GenesKANSL1, MAPT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv872339
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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