A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575180



Internal ID16015903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46171833..46178930hg38UCSC Ensembl
Innerchr17:44249199..44256296hg19UCSC Ensembl
Innerchr17:41604976..41612073hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg387098
hg197098
hg187098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv872417
Samples
Known GenesKANSL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575180
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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