Table 3.
Breakpoint Characteristics of CNVs.
| Subject | CNV Structure | Brekpoint Coordinate (GRCh37/hg19) | Length (bp) | Breakpoint Sequence Characteristics | Preferred Mutational Mechanism | Error Near Breakpoint (chr6) | |||
|---|---|---|---|---|---|---|---|---|---|
| Homologous Genomic Repeats | Microhomology | Insertion | Blunt Ends | ||||||
| P1 | DEL | [Chr6:129187644]:[Chr6:129212825] | 25,181 bp | No | CA | No | No | NHEJ or MMBIR | No |
| P2 | DEL | [Chr6:129185304]:[Chr6:129210133] | 24,829 bp | No | TCTT | No | No | NHEJ or MMBIR | No |
| P3 | DEL | [Chr6:129355433]:[Chr6:129402434] | 47,001 bp | No | TAA | No | No | NHEJ or MMBIR | G > T at 129355411; C > T at 129402537 |
| P4 | DEL | [Chr6:129221788]:[Chr6:129488858] | 267,070 bp | No | No | A | No | NHEJ | C > G at 129488876; T > A at 129488886 |
| P5 | DEL | [Chr6:129354701]:[Chr6:129548523] | 193,822 bp | No | No | No | Yes | NHEJ | No |
| P6 | DEL | [Chr6:129379289]:[Chr6:129454975] | 75,686 bp | No | No | TCGTAAAATACACA CACACACACACTCC | No | NHEJ | A > C at 129378992 |
| P7 | DEL | [Chr6:129414981]:[Chr6:129420437] | 5,465 bp | No | AACAA | No | No | NHEJ or MMBIR | No |
| P8 | DEL | [Chr6:129414981]:[Chr6:129420437] | 5,465 bp | No | AACAA | No | No | NHEJ or MMBIR | No |
| P9 | DEL | [Chr6:129414981]:[Chr6:129420437] | 5,465 bp | No | AACAA | No | No | NHEJ or MMBIR | No |
| P10 | DEL | [Chr6:129414981]:[Chr6:129420437] | 5,465 bp | No | AACAA | No | No | NHEJ or MMBIR | No |
| P11 | DEL | [Chr6:129414981]:[Chr6:129420437] | 5,465 bp | No | AACAA | No | No | NHEJ or MMBIR | No |
| P12 | DEL | [Chr6:129414981]:[Chr6:129420437] | 5,465 bp | No | AACAA | No | No | NHEJ or MMBIR | No |
| P13 | DEL | [Chr6:129414981]:[Chr6:129420437] | 5,465 bp | No | AACAA | No | No | NHEJ or MMBIR | No |
| P14 | DEL | [Chr6:129414981]:[Chr6:129420437] | 5,465 bp | No | AACAA | No | No | NHEJ or MMBIR | No |
| P15 | DEL | [Chr6:129423549]:[Chr6:129465235] | 41,686 bp | No | GAT | No | No | NHEJ or MMBIR | A inserted at 129423453–129423454 |
| P16 | DUP | [Chr6:129440069]:[Chr6:129478884] | 38,815 bp | No | A | No | No | NHEJ or MMBIR | No |
| P17 | DEL | [Chr6:129488856]:[Chr6:129544038] | 55,182 bp | L1PA2:L1PA5 | No | No | No | LINE-mediated rearrangement | C > T at 129544095 |
| P18 | DEL | [Chr6:129566786]:[Chr6:129578227] | 11,441 bp | No | A | No | No | NHEJ or MMBIR | A > G at 129578335 |
| P19 | DEL | [Chr6:129612189]:[Chr6:129613535] | 1,346 bp | No | A | No | No | NHEJ or MMBIR | A inserted at 129613597–129613598 |
| P20 | DEL | [Chr6:129658427]:[Chr6:129664812] | 6,390 bp | No | AGTACA | No | No | NHEJ or MMBIR | No |
| P21 | DEL | [Chr6:129710417–129711135]- [Chr6:129837710+] | NA | NA | NA | NA | NA | NA | NA |
| P22 | DEL-NML-DEL | [Chr6:129746506]:[Chr6:129775772] [Chr6:129776069]:[Chr6:129779042] | 29,266 bp 2,973 bp |
No | GC AC |
ACCCAAAACTCCCTGTTAAACCCAAAACAGC | No | NHEJ or MMBIR | No |
| P23 | DEL | [Chr6:129778345]:[Chr6:129782637] | 4,292p | No | No | TA | No | NHEJ | No |
| P24 | DEL | [Chr6:129778345]:[Chr6:129782637] | 4,292p | No | No | TA | No | NHEJ | No |
| P25 | DEL | [Chr6:129778271]:[Chr6:129813338] | 35,067 bp | No | No | No | Yes | NHEJ | C > G at 129778200; T > C at 129813347 |
| P26 | DEL | [Chr6:129816374]:[Chr6:129833601] | 17,227 bp | No | CAAA | No | No | NHEJ or MMBIR | No |
| P27 | DEL | [Chr6:129816374]:[Chr6:129833601] | 17,227 bp | No | CAAA | No | No | NHEJ or MMBIR | No |
| P28 | DEL | [Chr6:129816374]:[Chr6:129833601] | 17,227 bp | No | CAAA | No | No | NHEJ or MMBIR | No |
| P29 | DEL | [Chr6:129833559]:[Chr6:129833615] | 56 bp | — | — | — | — | — | — |
DEL, deletion; DUP, duplication.