A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17734889



Internal ID158555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99327644..99332500hg38UCSC Ensembl
chr3:99046488..99051344hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg384857
hg194857
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139997
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17734889
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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