A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585541



Internal ID16372950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14882326..14928095hg38UCSC Ensembl
Innerchr20:14862972..14908741hg19UCSC Ensembl
Innerchr20:14810972..14856741hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3845770
hg1945770
hg1845770
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151236
SamplesHGDP00693
Known GenesMACROD2, MACROD2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585541
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer