A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923473



Internal ID16419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190176355..190184852hg38UCSC Ensembl
chr2:191041081..191049578hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg388498
hg198498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5436232
Supporting Variants
Samples
Known GenesC2orf88
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923473
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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