A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928024



Internal ID19386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208069647..208077110hg38UCSC Ensembl
chr2:208934371..208941834hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg387464
hg197464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445611
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928024
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002342


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