A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916416



Internal ID11662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104425422..104425495hg38UCSC Ensembl
chr2:105041880..105041953hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437496
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916416
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