A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572639



Internal ID16360048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55760694..55784045hg38UCSC Ensembl
Innerchr16:55794606..55817957hg19UCSC Ensembl
Innerchr16:54352107..54375458hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3823352
hg1923352
hg1823352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5126n54
Supporting Variantsnssv857497
Samples
Known GenesCES1P1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572639
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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