A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575213



Internal ID16015936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46182553..46193106hg38UCSC Ensembl
Innerchr17:44259919..44270472hg19UCSC Ensembl
Innerchr17:41615696..41626249hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3810554
hg1910554
hg1810554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5632n54
Supporting Variantsnssv872468
Samples
Known GenesKANSL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575213
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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