Table 1.
Terminology
| Segment | An oriented, continuous genomic interval from the reference genome, denoted by chromosome, start-coordinate, end-coordinate. A donor chromosome is described as an ordered sequence of segments. |
| Breakpoint | A breakpoint is described by a pair of nonadjacent coordinates denoting a transition from one segment to another in the donor. |
| Chromosome group | A set of all homologous donor chromosomes sharing the same chromosomal identity. The chromosomal identity is determined by the most represented centromere and, if the chromosome is acentric, by the most represented chromosomal origin of its composing segments. |
| Chromosome cluster | A pair of chromosome groups is denoted as dependent if there exist breakpoints connecting them. A chromosome cluster is a connected component of dependent chromosome groups. A chromosome cluster is often defined by a set of canonical structural variants, each with International Standard of Cytogenetic Nomenclature (ISCN). |
| Molecular karyotype | A proposed file format that unambiguously describes the karyotype in terms of segments, with nucleotide-level resolution. This file format contains a dictionary of segments that spans the entire reference genome, followed by a set of ordered sequences of segments, each representing a chromosome. |
