Fig. 2: Overview of NUMTs in humans. | Nature Communications

Fig. 2: Overview of NUMTs in humans.

From: A long-read human pangenome initiative for comprehensive interpretation of nuclear-embedded mitochondrial DNA

Fig. 2: Overview of NUMTs in humans.The alternative text for this image may have been generated using AI.

a Ideogram of NUMTs from 539 human genome assemblies in this study. 774 fixed NUMTs are depicted above the ideogram track (red), while 280 polymorphic NUMTs (orange) and 123 pericentromeric NUMTs (gray) are shown below the ideogram track. Centromeric regions are labeled in purple. b Length distribution of fixed (left, red) and polymorphic (right, orange) NUMTs (top, 0-500 bp, 10-bp bin; bottom, > 500 bp, 200-bp bin). c The correlation between NUMT allele frequency and length is shown on the left. The proportions of NUMTs with different allele frequencies (ultra-rare (AF < 0.1%, blue), rare (0.1% ≤ AF < 1%, purple), and common (AF ≥ 1%, orange)) are shown on the right. The shaded areas indicate 95% confidence intervals. d Allele frequency comparisons of NUMTs between East Asian (EAS) and other superpopulations. Circles represent NUMTs, with those colored red indicating EAS-stratified NUMTs (two-tailed Fisher’s exact test with Bonferroni correction, adjusted P value < 0.05 compared to other superpopulations). Blue dots denote SNV allele frequencies across superpopulations, serving as controls. The shaded areas indicate 95% confidence intervals. Source data are provided as a Source Data file.

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