A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16910573



Internal ID7820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24819766..24819866hg38UCSC Ensembl
chr2:25042635..25042735hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443095
Supporting Variants
Samples
Known GenesADCY3, CENPO
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16910573
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