A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116941



Internal ID21300207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14644284..14969430hg38UCSC Ensembl
Innerchr20:14624930..14950076hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38325147
hg19325147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14099965
Samplessample232
Known GenesMACROD2, MACROD2-AS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116941
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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