A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575170



Internal ID16362579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46100627..46277430hg38UCSC Ensembl
Innerchr17:44177993..44354796hg19UCSC Ensembl
Innerchr17:41533806..41710573hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38176804
hg19176804
hg18176768
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5618n54
Supporting Variantsnssv872404, nssv872406, nssv872405, nssv872403
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575170
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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