A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572635



Internal ID16013358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55760389..55817384hg38UCSC Ensembl
Innerchr16:55794301..55851296hg19UCSC Ensembl
Innerchr16:54351802..54408797hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3856996
hg1956996
hg1856996
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv857489
Samples
Known GenesCES1, CES1P1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572635
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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