A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585458



Internal ID16026181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14701217..14909565hg38UCSC Ensembl
Innerchr20:14681863..14890211hg19UCSC Ensembl
Innerchr20:14629863..14838211hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38208349
hg19208349
hg18208349
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7467n54
Supporting Variantsnssv938057
Samples
Known GenesMACROD2, MACROD2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585458
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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