A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978515



Internal ID53054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:167025093..167064319hg38UCSC Ensembl
chr5:166452098..166491324hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3839227
hg1939227
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461020
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978515
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