A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575158



Internal ID16015881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46290850hg38UCSC Ensembl
Innerchr17:44165803..44368216hg19UCSC Ensembl
Innerchr17:41521621..41723993hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38202414
hg19202414
hg18202373
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5618n54
Supporting Variantsnssv872356, nssv872357
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)nsv575158
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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