A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575227



Internal ID16015950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46188336..46193619hg38UCSC Ensembl
Innerchr17:44265702..44270985hg19UCSC Ensembl
Innerchr17:41621479..41626762hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg385284
hg195284
hg185284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5635n54
Supporting Variantsnssv872483
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)nsv575227
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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