A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944489



Internal ID30334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194213721..194213721hg38UCSC Ensembl
chr3:193931510..193931510hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5538896
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944489
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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