A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703050



Internal ID21729371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17243831..17243831hg38UCSC Ensembl
chr20:17224476..17224476hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17214775, nssv17203150
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)nsv5703050
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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