A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575190



Internal ID16015913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46172434..46193055hg38UCSC Ensembl
Innerchr17:44249800..44270421hg19UCSC Ensembl
Innerchr17:41605577..41626198hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3820622
hg1920622
hg1820622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5625n54
Supporting Variantsnssv872429
Samples
Known GenesKANSL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575190
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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