A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16924811



Internal ID17284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:209882614..209893236hg38UCSC Ensembl
chr2:210747338..210757960hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3810623
hg1910623
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448970
Supporting Variants
Samples
Known GenesUNC80
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16924811
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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