A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732653



Internal ID156319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46016845..46016895hg38UCSC Ensembl
chr20:44645484..44645534hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548647
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732653
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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