Table 2.
Breakpoint junction characteristics of the four CGRs
| Families | BPJ | Chr | PosA | PosB | GeneA | GeneB | INS | Homology | PosA repeat | PosB repeat |
|---|---|---|---|---|---|---|---|---|---|---|
| 1,2 | 1 | 4 | 111100841 | 113912749 | ELOVL6 | ANK2 | – | AA | – | MLT1A |
| 1,2 | 2 | 4 | 113915113 | 113954280 | ANK2 | ANK2 | 8 nt | – | AluSz | – |
| 3 | 1 | X | 29020059 | 33038509 | IL1RAPL1 | DMD | – | 175 nt | AluSx3 | AluSz |
| 3 | 2 | X | 29570408 | 33426916 | IL1RAPL1 | – | – | AAT | LTR48B | – |
| 4 | 1 | 14 | 21501001 | 21879481 | RNASE13 NDRG2 | CHD8 | – | TGAA | L1MD2 | – |
| 4 | 2 | 14 | 21502976 | 21849620 | RNASE13 NDRG2 | SUPT16H | – | GTT | – | – |
| 5 | 1 | 16 | 3688503 | 3689781 | – | – | – | GGC | AluY | AluJo |
| 5 | 2 | 16 | 3762460 | 3899656 | TRAP1 | CREBBP | – | TCA | – | FLAM_C |
(INS) Insertion.