A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575040



Internal ID16015763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41610982..41624576hg38UCSC Ensembl
Innerchr17:39767234..39780828hg19UCSC Ensembl
Innerchr17:37020760..37034354hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3813595
hg1913595
hg1813595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv871843
Samples
Known GenesKRT16, KRT17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575040
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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