A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720126



Internal ID21746447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120285820..120285820hg38UCSC Ensembl
chr3:120004667..120004667hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38685
hg19685
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238591, nssv17250470
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)nsv5720126
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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