Introduction
Patients and methods
Genetic examinations
No. | Patient ID | Abnormality type | Chromosome | Position; Start (nt). | Position; End (nt). | Genomic span; Size (Kbp) | ClinVar Accession Number | Genes | No. of reported CNVs/cohort size | Study |
P value |
---|---|---|---|---|---|---|---|---|---|---|---|
1. | 40 [10] | Duplication | 2 | 45,453,858 | 45,455,897 | 2039 | SCV000300389 | LINC01121 | 5/771 | Pinto et al. [26] |
P = 0.031475 |
32 [3] | Duplication | 2 | 45,454,554 | 45,457,111 | 2557 | SCV000300390 | 1/17,421 | Cooper et al. 2011[27] |
P = 0.000011 | ||
2. | 32 [3]a
| Deletion | 9 | 107,554,745 | 110,762,725 | 3,207,980 | – | SLC44A1 | 1/2026 | Shaikh et al. [28] |
P = 0.000 |
FSD1L | 785 | ||||||||||
FKTN | |||||||||||
TMEM38B | |||||||||||
RAD23B | |||||||||||
3. | 29 [12] | Deletion | 11 | 14,504,463 | 14,909,461 | 404,998 | SCV000300391 | PSMA1, PDE3B, CYP2R1 | 1/2504 | 1000 Genomes Consortium Phase 3[29] |
P = 0.000518 |
28 [11] | Deletion | 11 | 14,657,389 | 14,918,308 | 260,919 | SCV000300392 | 1/2026 | Shaikh et al. [28] |
P = 0.000785 | ||
4. | 11 [6] | Deletion | 14 | 58,737,402 | 58,884,615 | 147,213 | SCV000300393 | PSMA3, ARID4A, TOMM20L, TIMM9 | 0/17421 | Cooper et al. [27] |
P = 0.000004 |
16 [12] | Deletion | 14 | 58,737,402 | 58,891,576 | 154,174 | SCV000300394 | |||||
5. | 29 [12] | Deletion | 15 | 62,128,861 | 62,340,126 | 211,265 | SCV000300395 | VPS13C | 6/17,421 | Cooper et al. [27] |
P = 0.000102 |
13 [10] | Deletion | 15 | 62,155,282 | 62,332,980 | 177,698 | SCV000300396 | 1/2026 | Shaikh et al. [28] |
P = 0.000785 | ||
SCV000300397 | 2/1557 | Itsara et al. [30] |
P = 0.002584 | ||||||||
6. | 23 [7]a
| Deletion | 17 | 38,146,929 | 38,153,473 | 6544 | SCV000300391 | PSMD3 | 0/17,421 | Cooper et al. [27] |
P = 0.000004 |