A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585453



Internal ID16026176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14629311..14956289hg38UCSC Ensembl
Innerchr20:14609957..14936935hg19UCSC Ensembl
Innerchr20:14557957..14884935hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38326979
hg19326979
hg18326979
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7465n54
Supporting Variantsnssv938053
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)nsv585453
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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