A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575194



Internal ID16362603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46173067..46289299hg38UCSC Ensembl
Innerchr17:44250433..44366665hg19UCSC Ensembl
Innerchr17:41606210..41722442hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38116233
hg19116233
hg18116233
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5624n54
Supporting Variantsnssv872433
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)nsv575194
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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