A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721379



Internal ID21747700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72588280..72588280hg38UCSC Ensembl
chr14:73054988..73054988hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250464
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)nsv5721379
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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