Table 1.
22q11.2 LCR rearrangement loci at fiber-FISH resolution
| Deletion type | No. of samples | Recombination locus and size | Locus in proximal LCR22 | Locus in distal LCR22 |
|---|---|---|---|---|
| LCR22-A/D | 13 | RL-AD1 (160 kb) | Chr 22:18,729,876–18,891,257cnv | Chr 22:21,162,204–21,325,236cnv |
| 2 | RL-AD2 (20 kb) | Chr 22:18,838,944–18,859,182cnv | Chr 22:21,115,387–21,137,124cnv | |
| LCR22-A/B | 2 | RL-B1 (20 kb) | Chr 22:18,196,206–18,218,744cnv | Chr 22:20,324,573–20,344,531 |
| 3 | RL-B2 (8 kb) | Chr 22:18,414,455–18,422,770cnv | Chr 22:20,331,987–20,339,583 | |
| LCR22-A/C | 3 | RL-C (10 kb) | Chr 22:18,845,620–18,855,844cnv | Chr 22:20,688,715–20,698,995 |
| LCR22-B/D | 1 | RL-B1 (20 kb) | Chr 22:20,324,573–20,344,531 | Chr 22:21,152,820–21,173,481cnv |
| LCR22-C/D | 1 | RL-C (10 kb) | Chr 22:20,688,715–20,698,995 | Chr 22:21,279,982–21,291,168cnv |
-
The chromosomal locus corresponds to the genomic location in reference genome hg38. CNV in superscript indicates the presence of copy number variability of the recombination locus in the LCR22 (-A and -D), based on Demaerel et al. (2019) and Pastor et al. (2020).
