A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718974



Internal ID21745295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:30745364..30745364hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg386019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245793
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)nsv5718974
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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