A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730389



Internal ID21756710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:35506345..35506345hg38UCSC Ensembl
chr14:35975551..35975551hg19UCSC Ensembl
Cytoband14q13.2
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 Variantsnssv17234955, nssv17244083
Samples
Known Genes
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)nsv5730389
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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