A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16914449



Internal ID10384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70294000..70294634hg38UCSC Ensembl
chr2:70521132..70521766hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38635
hg19635
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435062
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16914449
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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