A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16942752



Internal ID29166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191006304..191551704hg38UCSC Ensembl
chr3:190724093..191269493hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38545401
hg19545401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450883
Supporting Variants
Samples
Known GenesCCDC50, OSTN, PYDC2, UTS2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16942752
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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