| CCR | complex chromosomal rearrangements |
| array CGH | array comparative genomic hybridization |
| FISH | fluorescence in situ hybridization |
| GTG banding | Giemsa–Trypsin banding |
| SNP array | single-nucleotide polymorphism probe-containing array |
| WGS | whole-genome sequencing |
| CMA | chromosomal microarray analysis |
| OGM | optical genome mapping |
| BFB | breakage–fusion–bridge cycle |
| NHEJ | non-homologous end joining |
| NAHR | non-allelic homologous recombination |
| CNV | copy number variation |
| FoSTeS | Fork Stalling and Template Switching |
| MMBIR | Microhomology-Mediated Break-Induced Replication |
| UCSC | University of California, Santa Cruz, Genome Browser database |
| EEG | electroencephalography |
| GRCh37 | Genome Reference Consortium Human Build 37 |
| WCP | whole chromosome painting FISH probe |