The structural variants (SVs) present in mammalian genomes include deletions, insertions, inversions, duplications, translocations, extrachromosomal DNA circles (ecDNAs), and complex rearrangements. In an individual human genome, SVs collectively affect more nucleotides than any other class of genetic variation and have been associated with myriad rare and common diseases as well as normal phenotypic variation. However, it has been very challenging to study the functional consequences of SVs at scale, largely because methods to generate, map, and characterize SVs in model systems (e.g., mammalian cell lines) are grossly underdeveloped.
