A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698330



Internal ID121996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102171230..102173361hg38UCSC Ensembl
chr14:102637567..102639698hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg382132
hg192132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504264
Supporting Variants
Samples
Known GenesWDR20
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698330
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.009054


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