A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966711



Internal ID45128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68109111..68110265hg38UCSC Ensembl
chr5:67404939..67406093hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg381155
hg191155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462727
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966711
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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