A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944521



Internal ID30355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194491014..194494776hg38UCSC Ensembl
chr3:194211743..194215505hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg383763
hg193763
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449675
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944521
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