A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575157



Internal ID16015880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46290846hg38UCSC Ensembl
Innerchr17:44165803..44368212hg19UCSC Ensembl
Innerchr17:41521621..41723989hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38202410
hg19202410
hg18202369
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5618n54
Supporting Variantsnssv872355, nssv872354, nssv872353
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)nsv575157
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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