A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575256



Internal ID16015979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46193425..46272927hg38UCSC Ensembl
Innerchr17:44270791..44350293hg19UCSC Ensembl
Innerchr17:41626568..41706070hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3879503
hg1979503
hg1879503
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5634n54
Supporting Variantsnssv872531
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)nsv575256
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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