A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533281



Internal ID309176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17240020..17254238hg38UCSC Ensembl
chr20:17220665..17234883hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3814219
hg1914219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731296
Samples
Known GenesPCSK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533281
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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