A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17733074



Internal ID156740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53724633..53726643hg38UCSC Ensembl
chr20:52341172..52343182hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg382011
hg192011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531043
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17733074
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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