AGAP duplicons associate with structural diversity at Chromosome 10q11.22

Table 3.

Features of rearrangements and breakpoints

Haplotype Rearrangement NAHR SD pair Breakpoint
Class Size (bp) Length (kbp) Identity (%) Length (bp) Identity (%) Genes Repetitive elements GC content (%)
H2.1 Inversion 1,433,448 446 99.46 17,420 99.80 NPY4R Large region 49
H2.2 Inversion 1,321,414 446 99.46 4993 99.64 AC244230.2 Large region 48
H2.3 Inversion 1,510,974 446 99.46 4999 99.84 LINC00842 Large region 52
H2.4 Inversion 993,568 446 99.46 25,598 99.89 AL136982.3 Large region 39
H2.5 Inversion 902,230 446 99.46 7220 99.74 FAM245B Large region 36
H3 Deletion 176,406 18 94.36 369 100 No No 66
H5 Duplication 714,524 56 99.15 867 100 No LINE L1M4 43
H9 Inversion 1,089,232 68 99.20 1207 100 ANXA8 LINE L4_C_Mam 51
H10 Deletion 501,667 446 99.46 19,957 99.79 FAM245B Large region 34
H11 Deletion 671,796 122 99.63 1641 99.70 FRMPD2 LTR33 + MER20 52
  • The length and identity of the entire SD pair mediating the NAHR event as well as features of the narrowed breakpoint sequence are shown. Data were taken from the CAT + Liftoff Gene Annotations, RepeatMasker Repetitive Elements, and GC Percent in 5-Base Windows UCSC Genome Browser tracks (T2T-CHM13 v2.0).

This Article

  1. Genome Res. 34: 1487-1499

Preprint Server