A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575232



Internal ID16015955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46190497..46248879hg38UCSC Ensembl
Innerchr17:44267863..44326245hg19UCSC Ensembl
Innerchr17:41623640..41682022hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3858383
hg1958383
hg1858383
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5630n54
Supporting Variantsnssv872488, nssv872489
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)nsv575232
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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