A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16933346



Internal ID22962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49431965..49435974hg38UCSC Ensembl
chr3:49469398..49473407hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384010
hg194010
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443788
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16933346
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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