Fig. 5: Chromosome Y and an example of a de novo mobile element.
From: Human de novo mutation rates from a four-generation pedigree reference
a, Pedigree of the nine male individuals carrying the R1b1a-Z302 Y chromosomes (left) and pairwise comparison of Y assemblies: closely related Y from HG00731 (R1b1a-Z225) and the most contiguous R1b1a-Z302 Y assemblies from three generations. Y-chromosomal sequence classes are shown with the pairwise sequence identity between samples in 100 kb bins, with quality-control-passed SVs identified in the pedigree male individuals shown as blue and red outlines. b, Summary of chromosome Y DNMs. Top, the structure of chromosome Y of G1-NA12889. Below the Y structure, all of the identified DNMs across G1–G3 Y assemblies are shown. Bottom, breakout by mutation class and by sample. DNMs that show evidence of transmission from G2 to G3–G4, and from G3-NA12886 to his male descendants in G4 are shown in grey. c, De novo SVA insertion in G3-NA12887. d, HiFi read support for the de novo SVA insertion in G3-NA12887.
