Table 1. Examples from the human literature of categories of local inverted SVs.
| Example | Category of CNV | Homology at junction(s) | Chromo-somal location | Gene/syndrome | Reference | Case ID | Copy number on the affected chromosome |
|---|---|---|---|---|---|---|---|
| 1 | DUP-TRP/INV-DUP | 4 bp; RE or LCR | Xq22.2 | PMB/Pelizaeus-Merzbacher disease | [34] | BAB1612/P374 | 1-2-3-2-1 |
| 2 | DUP-TRP/INV-DUP | 47 bp (AluSx); RE or LCR | Xq22.2 | PMB/Pelizaeus-Merzbacher disease | [34] | BAB3698 | 1-2-3-2-1 |
| 3 | DUP-TRP/INV-DUP | 0 bp; RE or LCR | Xq22.2 | PMB/Pelizaeus-Merzbacher disease | [34] | P558 | 1-2-3-2-1 |
| 4 | DUP-TRP/INV-DUP | 2 bp; RE or LCR | Xq22.2 | PMB/Pelizaeus-Merzbacher disease | [34] | P642 | 1-2-3-2-1 |
| 5 | DUP-TRP/INV-DUP | 1 bp; RE or LCR | Xq22.2 | PMB/Pelizaeus-Merzbacher disease | [34] | P674 | 1-2-3-2-1 |
| 6 | DUP-TRP/INV-DUP | 3 bp; RE or LCR | Xq22.2 | PMB/Pelizaeus-Merzbacher disease | [34] | P820 | 1-2-3-2-1 |
| 7 | DUP-TRP/INV-DUP | 0 bp; RE or LCR | Xq22.2 | PMB/Pelizaeus-Merzbacher disease | [34] | P842 | 1-2-3-2-1 |
| 8 | DUP-TRP/INV-DUP | 2 bp; RE or LCR | Xq22.2 | PMB/Pelizaeus-Merzbacher disease | [34] | P1150 | 1-2-3-2-1 |
| 9 | DUP-TRP/INV-DUP | 1 bp; RE or LCR | Xq22.2 | PMB/Pelizaeus-Merzbacher disease | [34] | P1389 | 1-2-3-2-1 |
| 10 | DUP-TRP/INV-DUP | 2 bp; RE or LCR | Xq22.2 | PMB/Pelizaeus-Merzbacher disease | [34] | P1407 | 1-2-3-2-1 |
| 11 | DUP-TRP/INV-DUP | 2/4 bp; IRs | Xq28 | MECP2/ID and DD | [35] | BAB2769 | 1-2-3-2-1 |
| 12 | DUP-TRP/INV-DUP | 3 bp; IRs | Xq28 | MECP2/ID and DD | [35] | BAB2772 | 1-2-3-2-1 |
| 13 | DUP-TRP/INV-DUP | 2 bp; IRs | Xq28 | MECP2/ID and DD | [35] | BAB2796 | 1-2-3-2-1 |
| 14 | DUP-TRP/INV-DUP | 2 bp; IRs | Xq28 | MECP2/ID and DD | [35] | BAB2980 | 1-2-3-2-1 |
| 15 | DUP-TRP/INV-DUP | 1 bp; IRs | Xq28 | MECP2/ID and DD | [35] | BAB2797 | 1-2-3-2-1 |
| 16 | DUP-TRP/INV-DUP | ? bp; IRs | Xq28 | MECP2/ID and DD | [35] | BAB2801 | 1-2-3-2-1 |
| 17 | DUP-TRP/INV-DUP | 0 bp; IRs | Xq28 | MECP2/ID and DD | [35] | BAB2805 | 1-2-3-2-1 |
| 18 | DUP-TRP/INV-DUP | ? bp; IRs | Xq28 | MECP2/ID and DD | [35] | BAB3114 | 1-2-3-2-1 |
| 19 | DUP-TRP/INV-DUP | 2/3 bp; IRs | Xq28 | MECP2/ID and DD | [49] | BAB2727 | 1-2-3-2-1 |
| 20 | DUP-TRP/INV-DUP | LCR; 0 bp | Xq22.2 | PLP1/Pelizaeus-Merzbacher disease | [50] | 9 YO (M) | 1-2-3-2-1 |
| 21 | DUP-TRP/INV-DUP | not reported | Xq28 | MECP2/ID and ASD | [51] | Patient 1 (M) | 1-2-3-2-1 |
| 22 | DUP-TRP/INV-DUP with AOH | 4 bp; 2 bp | 14q23 | Temple Syndrome | [36] | BAB7004 (M) | 1-2-3-2-1 |
| 23 | DUP-TRP/INV-DUP with AOH | 4 bp; 2 bp | 1q42 | Tetralogy of Fallot and ID | [52] | 25 YO (M) | 1-2-3-2-1 |
| 24 | DUP/INV-NML-DEL | LCR; 2 bp | Xq28 | Factor 8 /Haemophilia A | [37] | Proband 3 (F) | 1-2-1-0-1 |
| 25 | DUP/INV-NML-DEL | 1 bp; LTRs | Xq28 | Factor 8 /Haemophilia A | [37] | Proband 4 (F) | 1-0-1-2-1 |
| 26 | DUP-TRP/INV-DUP with TEL DEL | 5 bp; 4 bp | 13q | Microphthalmia, anophthalmia and coloboma | [53] | newborn | 1-2-3-2-0 |
| 27 | DUP/INV-NML with TEL DEL | 3 bp; de novo telomere addition | 10qter | DD, ASD, multiple phenotypes | [38] | Patient 5 (F) | 1-2-1-0 |
| 28 | DUP/INV-NML with TEL DEL | 6 bp | 13q34 | ID and DD | [54] | Patient 1 | 1-2-1-0 |
| 29 | DUP/INV-NML with TEL DEL | 4 bp | 8p23.2 | ID and DD | [54] | Patient 4 | 0-1-2-1 |
| 30 | DUP/INV-NML with TEL DEL | 0 bp | 11q25 | IGSF9B/ID and DD | [54] | Patient 9 | 1-2-1-0 |
| 31 | DUP/INV-NML with TEL DEL | 3 bp | 4p | not reported | [54] | case 1 | 1-2-1-0 |
| 32 | DUP/INV-NML with TEL DEL | 2 bp | 4q | not reported | [54] | case 2 | 1-2-1-0 |
| 33 | DUP/INV-NML with TEL DEL | 0 bp | 9p | not reported | [54] | case 4 | 0-1-2-1 |
| 34 | DUP/INV-NML with TEL DEL | 2 bp | 10q | not reported | [54] | case 5 | 1-2-1-0 |
| 35 | DUP/INV-NML with TEL DEL | 3 bp | 11q | not reported | [54] | case 6 | 1-2-1-0 |
| 36 | DUP/INV-NML with TEL DEL | 3 bp | 18p | not reported | [54] | case 7 | 0-1-2-1 |
| 37 | DUP/INV-NML with TEL DEL | Olfactory receptor gene cluster | 8p | not reported | [54] | case 9 | 0-1-2-1 |
| 38 | DUP/INV-NML with TEL DEL | Olfactory receptor gene cluster | 8p | not reported | [44] | case 10 | 0-1-2-1 |
| 39 | DUP/INV–NML–DUP | LCR; 5 bp | Xq28 | Factor 8 /Haemophilia A | [37] | Proband 2 (M) | 1-2-1-2-1 |
| 40 | DUP/INV–NML–DUP with TEL DEL | 6 bp; 2 bp | 13qter | Tetralogy of Fallot; DD | [38] | Patient 1 (F) | 1-2-1-2-1-0 |
| 41 | DUP/INV–NML–DUP with TEL DEL | 2 bp; o bp | 4pter | Wolf–Hirschhorn syndrome and DD | [38] | Patient 2 (M) | 0-1-2-1-2-1 |
| 42 | DUP/INV–NML–DUP with TEL DEL | 14 bp; 0 bp | 4pter | generalized hypotonia | [38] | Patient 3 (F) | 0-1-2-1-2-1 |
| 43 | DUP/INV–NML–DUP with TEL DEL | 3 bp; 1 bp | 4pter | Developmental delay | [38] | Patient 4 (F) | 0-1-2-1-2-1 |
| 44 | DUP/INV-NML-DEL-NML with TEL DEL | 4 bp; 3 bp | 1q43 | AKT3; CNST; KMO/ID and DD | [54] | Patient 11 | 1-2-1-0-1-0 |
| 45 | DEL-NML-DUP/INV-NML with TEL-DEL | 4 bp; 4 bp | 3q29 | ID and DD | [54] | Patient 7 | 1-0-1-2-1-0 |
AOH, absence of heterozygosity; ASD, autism spectrum disorder; DD, developmental delay; DEL, deletion; DUP, duplication; DUP/INV, inverted duplication; ID, intellectual disability; IR, inverted repeat; LCR, low copy repeat; LTR, long terminal repeat; NML, normal copy number; RE, repeated element; TEL DEL, telomere deletion; TRP/INV, inverted triplication.