A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714662



Internal ID21740983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:29983385..29983385hg38UCSC Ensembl
chr14:30452591..30452591hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg382018
hg192018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249226
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)nsv5714662
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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