Table 2 Copy number variants with high frequency in Mexican Mestizo individuals
From: Frequent copy number variants in a cohort of Mexican-Mestizo individuals
Locus | CN | Healthy tissues | Aneuploid tissues | Total percentage across all studied population | Coordinates (hg19) | Genes located in the region | ||||
|---|---|---|---|---|---|---|---|---|---|---|
MXM (n = 50) | MXM_WBC (n = 99) | MXM_A (n = 97) | ||||||||
n | Total (Percentage) | n | Total (Percentage) | n | Total (Percentage) | |||||
2p11.2 | 3 | 25 | 49/50 (98%) | 62 | 99/99 (100%) | 20 | 97/97 (100%) | 99.6% | chr2: 89,143,755–92,057,597. 2.9 Mb | IGKV2D-28 (HGNC:5799), IGKV3D-7 (HGNC:5829) |
4 | 24 | 37 | 77 | |||||||
8p11.22 | 1 | 29 | 29/50 (58%) | 44 | 57/99 (57.6%) | 40 | 48/97 (49.5%) | 54.5% | chr8: 39,230,170–39,386,952. 156,782 bp | ADAM5 (HGNC: 212), ADAM3A (HGNC:209) |
0 | 0 | 13 | 8 | |||||||
14q32.33 | 3 | 20 | 50/50 (100%) | 62 | 99/99 (100%) | 55 | 97/97 (100%) | 100% | chr14: 106,078,230–107,100,266. 1.02 Mb | MIR4507 (HGNC:41,642), MIR4538 (HGNC:41,664), MIR4537 (HGNC:41,682), MIR4539 (HGNC:41,546), KIAA0125 (HGNC:1995), ADAM6 (HGNC:213), LINC00226 (HGNC:20,168) IGHD (HGNC:5480) IGHG3 (HGNC:5527) IGHG1 (HGNC:5525) |
4 | 30 | 37 | 42 | |||||||
15q11.2 | 1 | 21 | 45/50 (90%) | 38 | 63/99 (63.6%) | 37 | 67/97 (69%) | 71.1% | chr15:2,085,106–22,588,019. 1,735,914 bp | OR4M2-OT1(HGNC:56,199), LINC02203 (HGNC:53,069), OR4M2 (HGNC:15,373), OR4N4 (NCBI: 283,694), OR4N3P (HGNC:15,375), IGHV1OR15-1(HGNC:5563), LOC102724760 (NCBI: 102,724,760), IGHV1OR15-3 (HGNC:5565), LOC642131 (NCBI: 642,131), MIR1268A (HGNC:35,336), REREP3 (HGNC:38,797) |
3 | 24 | 23 | 30 | |||||||
4 | 2 | |||||||||