A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17731997



Internal ID155663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33006984..33007844hg38UCSC Ensembl
chr20:31594790..31595650hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38861
hg19861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524713
Supporting Variants
Samples
Known GenesBPIFB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17731997
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