A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730395



Internal ID154061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3215894..3217082hg38UCSC Ensembl
chr20:3196540..3197728hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381189
hg191189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516924
Supporting Variants
Samples
Known GenesITPA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730395
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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