Fig. 2

Inversions identified from the 1000GP and CIAPM samples. a The structure of in silico hg38 3q29 locus represented at the top with white background and dark vertical lines. The SD blocks were presented above, 3q29 segments (colored arrows) were overlaid on. Three types of inversions, Type I, Type II, and Type III, detected from this study were presented below the in silico map. Type I represents inversions > 2 mbp in size, Type II represents inversions ~ 289 kbp in size, and Type III represents inverted duplications of five 3q29 segments (black rectangles). Black, orange and blue boxes: 3q29 SD blocks; green arrow: 3q29 segment; black arrow: unique region between SDB and SDC. Strand A at the top, displays reference structures and strand B below represents inverted structures. b Upper rectangle with white background and vertical lines represents chm13/T2T in silico map of the 3q29 locus. The rectangle at the bottom represents the structure of INV-1 (~ 2.03 Mbp). Red rectangle: highlighting the molecules supporting the inversion breakpoints. c Upper rectangle with white background and vertical lines represents hg38 in silico map of the 3q29 locus. The rectangle at the bottom represents the structure of INV-2 (~ 2.13 Mbp). Red rectangle: highlighting the molecules supporting the inversion breakpoints. d hg38 and NCBI35/hg17 reference assemblies represented with white backgrounds and vertical blue lines. Black arrows in NCBI35/hg17 represent inversion breakpoints identified by Antonacci and colleagues [57]. Colored arrows in each panel represent 3q29 segments. e hg38 human genome reference assembly presented at the top and the 289-kbp inversion, including the 3q29 segments, represented at the bottom. The red rectangle highlights the molecules supporting the inversion breakpoints