A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585448



Internal ID16026171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14556216..14593321hg38UCSC Ensembl
Innerchr20:14536862..14573967hg19UCSC Ensembl
Innerchr20:14484862..14521967hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3837106
hg1937106
hg1837106
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7464n54
Supporting Variantsnssv938047
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)nsv585448
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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