A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116739



Internal ID21300005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14769052..14897155hg38UCSC Ensembl
Innerchr20:14749698..14877801hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38128104
hg19128104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14099736
Samplessample60
Known GenesMACROD2, MACROD2-AS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116739
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