A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714496



Internal ID21740817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:34541312..34541312hg38UCSC Ensembl
chr3:34582804..34582804hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245743
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)nsv5714496
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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