A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697141



Internal ID21723462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17299426..17299426hg38UCSC Ensembl
chr20:17280071..17280071hg19UCSC 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 Variantsnssv17203151
Samples
Known GenesPCSK2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5697141
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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