This track collection shows Mobile Element Insertions (MEIs) in the human genome. Mobile elements are stretches of DNA that have copied themselves into new genomic locations during evolution, and a few families remain active enough to keep producing new insertions in the human population today. The three element classes responsible for almost all MEIs in humans are Alu (~300 bp SINE retrotransposons), L1/LINE-1 (typically 6 kb autonomous retrotransposons) and SVA (composite elements of ~700-3000 bp). Polymorphic MEIs - sites where some individuals carry the inserted element while others do not - are an important source of structural variation, can disrupt or alter gene expression, and have been implicated in a number of human diseases.
Tracks in this collection report MEI calls assembled from long-read genome sequencing. Items are colored by element class.
Related: Long-read Structural Variants contains the parent SV callsets from which several of these MEI tracks are derived. RepeatMasker shows all annotated mobile elements in the reference genome (regardless of whether they are polymorphic).
Each MEI is shown as a 1-bp anchor block at the position where the insertion attaches to the reference. Items are colored by element class:
Filters available on the subtrack configuration page allow restricting the displayed items by element class, insertion length, allele frequency, number of carrier samples, the number of MEI callers that supported the call, validation by L1ME-AID or PALMER, and overlap with reference segmental duplications and tandem repeats.
Each subtrack has its own description page with details on file location, the autoSql schema, citation and download instructions.
Logsdon GA, Ebert P, Audano PA, Loftus M, Porubsky D, Ebler J, Yilmaz F, Hallast P, Prodanov T, Yoo D et al. Complex genetic variation in nearly complete human genomes. Nature. 2025 Aug;644(8076):430-441. PMID: 40702183; PMC: PMC12350169