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Fig. 2 | BMC Biology

Fig. 2

From: Insertion variants missing in the human reference genome are widespread among human populations

Fig. 2

Catalogues of non-reference insertion SVs from the 1000 Genomes Project. a Size distribution of non-reference insertion SVs greater than 50 bp. The distribution indicates a significant negative relationship in the log-log linear regression model (β = − 0.93 s.d., p value < 2.0 × 10−16). The count and size of the variants are indicated on a log-10 scale, and variants larger than 10 kbp are omitted. b Total size of the genotyped insertion variants from each individual (n = 1148). Each dot represents an individual genome from the 1000 Genomes Project, arranged in decreasing size. c The number of variants in the retention of ancestral sequence and novel sequence insertions groups. d Proportion of inferred mutational mechanism between two groups of non-reference insertion SVs

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