A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718744



Internal ID21745065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69079601..69079601hg38UCSC Ensembl
chr14:69546318..69546318hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38767
hg19767
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252382, nssv17250334
Samples
Known GenesDCAF5
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)nsv5718744
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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