A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17733413



Internal ID157079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:60180405..60197562hg38UCSC Ensembl
chr20:58755463..58772620hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3817158
hg1917158
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533487
Supporting Variants
Samples
Known GenesLOC284757
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17733413
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