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. 2023 Jul 14;33(10):745–761. doi: 10.1038/s41422-023-00849-5

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© The Author(s) 2023

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — a–d The contig NG50, scaffold NG50, phase NG50, and QV of GRCh38, HG002, CN1, and CHM13. e Whole-genome distribution of the heterozygosity rate (h). The heterozygosity rate is calculated as the SV count in each 500 kb window. f Visualization of the heterozygous regions between two haplotypes using bubbles. Here, h = 2 was set as the threshold for displaying bubbles. The homozygous regions are shown as single paths (grey), and the heterozygous regions at each heterozygosity rate are marked as bubbles. Regions with different h are shown in different shades. Centromeres (black lines) carry much higher h than other regions. The insert plot shows the structural variations in the centromere of chr1. αSat and HSat2 are the most divergent (window = 50 kb, step = 10 kb). An inversion, covering βSat and γSat, is shown between the paternal and maternal genomes (light yellow).