A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732813



Internal ID156479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49125625..49127077hg38UCSC Ensembl
chr20:47742162..47743614hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381453
hg191453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516095
Supporting Variants
Samples
Known GenesSTAU1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732813
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000937


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