A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575247



Internal ID16015970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46193055..46196553hg38UCSC Ensembl
Innerchr17:44270421..44273919hg19UCSC Ensembl
Innerchr17:41626198..41629696hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg383499
hg193499
hg183499
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv872521
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)nsv575247
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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