The schematic summarizes the distribution of insertions, deletions and inversions on each human chromosome. A total of 297 clusters were identified: 139 insertions, 102 deletions and 56 inversions ...

Genome assemblies from 65 individuals, representing a variety of the world’s populations, are advancing the scientific exploration of complex genetic structural variation. Structural variations are ...

Researchers have significantly expanded the catalogue of known human genetic variation. The resulting datasets, shared in two back-to-back publications in the journal Nature, constitute what may be ...

Structural variants (SVs) reach up to the megabase scale and account for 10 times as many variants as single nucleotide polymorphisms in the human genome. They contribute to a range of normal and ...