A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421016



Internal ID200105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17299426..17299477hg38UCSC Ensembl
chr20:17280071..17280122hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731301
Samples
Known GenesPCSK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421016
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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