A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718641



Internal ID21744962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168275593..168275593hg38UCSC Ensembl
chr3:167993381..167993381hg19UCSC Ensembl
Cytoband3q26.2
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 Variantsnssv17243985, nssv17252061
Samples
Known GenesEGFEM1P
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)nsv5718641
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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