A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973649



Internal ID49816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:110976984..110977036hg38UCSC Ensembl
chr5:110312683..110312735hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455426
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973649
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.020006


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