Table 2.
Potential Korean-specific CNVRs with the allele frequency ≥5%
| Chr | Cytoband | Start (bp) | End (bp) | Size (kb) | Frequency (%) | Status | Genes |
|---|---|---|---|---|---|---|---|
| 1 | 1q23.3 | 162009464 | 162082267 | 72.804 | 6.74 | L | — |
| 1 | 1q31.2 | 189272340 | 189325007 | 52.668 | 5.76 | L | — |
| 2 | 2q22.1 | 140652118 | 140854714 | 202.597 | 6.99 | L | LRP1B |
| 3 | 3p24.2 | 24363248 | 24448859 | 85.612 | 5.09 | L | THRB |
| 3 | 3p13 | 72398646 | 72444156 | 45.511 | 5.28 | L | — |
| 4 | 4q13.1 | 61078573 | 61119445 | 40.873 | 6.99 | C | — |
| 5 | 5q11.2 | 50838014 | 50898889 | 60.876 | 6.09 | L | — |
| 5 | 5q14.3 | 89233437 | 89297026 | 63.59 | 5.48 | L | — |
| 7 | 7p21.3 | 11648289 | 11768235 | 119.947 | 9.03 | L | THSD7A |
| 7 | 7q21.3 | 92910385 | 93006702 | 96.318 | 5.25 | L | CALCR, MIR653,MIR489 |
| 8 | 8q21.12 | 78570181 | 78643662 | 73.482 | 6.65 | L | — |
| 11 | 11p15.1 | 21345470 | 21395190 | 49.721 | 5.25 | L | NELL1 |
| 12 | 12q21.1 | 70034230 | 70095777 | 61.548 | 7.04 | L | — |
| 13 | 13q21.1 | 55173808 | 55234854 | 61.047 | 7.57 | L | — |
| 17 | 17q21.33 | 47334364 | 47468516 | 134.153 | 5.81 | L | CA10 |
L, CNVRs containing CN-losses only; C, complex CNVRs containing both gains and losses in the same loci.