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. 2020 Jul 9;182(1):189–199.e15. doi: 10.1016/j.cell.2020.05.024

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© 2020 The Authors

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

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Figure S7 — Chr16 Oceanian-Specific Expansion, Related to Figure 2E and Table 1

Top: Fiber-FISH illustrating the original site (top), the (inverted) insertion sites (center) and the region surrounding the insertion site (bottom). Region flanking the insertion site (C9) is a sequence 1Mb away from the original site, consistent with GenomeSTRiP calling a second duplication at this site in perfect LD with the initial duplication. Manta also identifies a Papuan-specific inversion at this locus. This suggests a complex event involving a duplication-inverted-insertion, an inversion and a deletion. Bottom: 10X-linked reads barcode overlap in region. Longranger also identifies a complex event at this locus. Top plot shows the original site barcode overlap and the regions of structural rearrangements, including the region of C9 (on the left). Bottom shows the insertion site. Note that this region is gene rich, and the candidate gene(s) under selection is not known and requires further study.