A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724990



Internal ID21751311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17238438..17238438hg38UCSC Ensembl
chr20:17219083..17219083hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252265
Samples
Known GenesPCSK2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5724990
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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