Skip to main content

Table 1 Summary of top 10 population-stratified structural variations

From: Characterization of structural variation in Tibetans reveals new evidence of high-altitude adaptation and introgression

No. Location (GRCh37) Type Length (bp) FST Genotyped AF Candidate affected genes
Tibetan Han Biaka
1 chr2:46,694,272–46,697,680 Deletion 3408 0.54 0.58 0.02 0.00 TMEM247 and other 8 genes
2 chr1:158,488,405–158,488,672 Deletion 267 0.22 0.84 0.51 0.56 OR10Z1
3 chr22:40,935,457–40,935,620 Deletion 163 0.22 0.51 0.17 0.00 MRTFA, EP300
4 chr9:81,725,770–81,726,090 Deletion 320 0.20 0.63 0.30 0.56 TLE4
5 chr7:1,185,068–1,187,658 Deletion 2590 0.19 0.77 0.45 0.92 ZFAND2A, GPER1
6 chr18:45,099,900–45,100,212 Deletion 312 0.18 0.24 0.02 0.48 SKOR2
7 chr7:127,766,419–127,766,732 Deletion 313 0.18 0.62 0.30 1.00 LRRC4
8 chr12:52,354,758–52,354,891 Deletion 133 0.17 0.60 0.29 0.04 ACVR1B
9 chr21:42,402,890–42,403,212 Deletion 322 0.17 0.70 0.39 1.00 BACE2
10 chr5:52,231,784–52,232,117 Deletion 333 0.17 0.63 0.89 0.90 ITGA1
  1. FST, fixation index between Tibetans and Hans; AF, allele frequency; bp, base pairs