A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16919869



Internal ID14033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121870483..122273973hg38UCSC Ensembl
chr2:122628059..123031549hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38403491
hg19403491
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5451167
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16919869
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