A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585449



Internal ID16026172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14556216..14607522hg38UCSC Ensembl
Innerchr20:14536862..14588168hg19UCSC Ensembl
Innerchr20:14484862..14536168hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3851307
hg1951307
hg1851307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7464n54
Supporting Variantsnssv938048
Samples
Known GenesMACROD2, MACROD2-IT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585449
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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