A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977899



Internal ID52663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181258064..181258614hg38UCSC Ensembl
chr5:180685065..180685615hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38551
hg19551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463991
Supporting Variants
Samples
Known GenesTRIM52
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977899
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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