A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575228



Internal ID16015951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46188336..46193672hg38UCSC Ensembl
Innerchr17:44265702..44271038hg19UCSC Ensembl
Innerchr17:41621479..41626815hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg385337
hg195337
hg185337
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv872484
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575228
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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