A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16926023



Internal ID18092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219772369..219804531hg38UCSC Ensembl
chr2:220637091..220669252hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3832163
hg1932162
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449048
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16926023
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