A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572632



Internal ID16013355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55759783..55829137hg38UCSC Ensembl
Innerchr16:55793695..55863049hg19UCSC Ensembl
Innerchr16:54351196..54420550hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3869355
hg1969355
hg1869355
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv857485
Samples
Known GenesCES1, CES1P1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572632
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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