A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585546



Internal ID16026269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14897008..14950848hg38UCSC Ensembl
Innerchr20:14877654..14931494hg19UCSC Ensembl
Innerchr20:14825654..14879494hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3853841
hg1953841
hg1853841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7483n54
Supporting Variantsnssv938175
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)nsv585546
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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