A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520959



Internal ID297267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50078946..50081238hg38UCSC Ensembl
chr20:48695483..48697775hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg382293
hg192293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732863
Samples
Known GenesTMEM189-UBE2V1, UBE2V1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520959
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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