A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966718



Internal ID45134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68173997..68183615hg38UCSC Ensembl
chr5:67469825..67479443hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg389619
hg199619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469404
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966718
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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