A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572647



Internal ID16360056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55762760..55783445hg38UCSC Ensembl
Innerchr16:55796672..55817357hg19UCSC Ensembl
Innerchr16:54354173..54374858hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3820686
hg1920686
hg1820686
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5127n54
Supporting Variantsnssv857519
Samples
Known GenesCES1P1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572647
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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