A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732833



Internal ID156499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49519943..49519984hg38UCSC Ensembl
chr20:48136480..48136521hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5553634
Supporting Variants
Samples
Known GenesPTGIS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732833
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.035963


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