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. 2015 Aug 21;6:8018. doi: 10.1038/ncomms9018

Figure 3. Properties of genomic variation discovered in 1KJPN.

Figure 3

(a) The size-frequency spectrum of SNVs, deletions and insertions discovered by high-coverage sequencing in 1KJPN. Novelty rates are shown by the red line. Peaks corresponding to long interspersed elements (LINE), Alu and microsatellite repeat (MSR) are shown. (b) Size-frequency spectrum of CNVs estimated from high-coverage sequencing data in the genic regions in 1KJPN. (c) Histograms and scatterplot of diploid copy numbers of AMY1 genes (blue) and region X (red) in 1KJPN. A diagram depicting the positions of AMY1A, Region X, AMY1B and AMY1C on chromosome 1 of GRCh37 is shown in the right top. (d) Allele frequencies for HLA-A in 1,070 individuals in 1KJPN estimated by high-coverage sequencing (blue), and 1,018 Japanese individuals typed by PCR-SSOP (red)42.