Fig. 1

The human genome structural variant (SV) resource. a The detection of 99,604 nonredundant SVs in 15 samples from five populations using a long-read sequencing technology. AK1 [4] and HX1 [5] are Asian individuals whose genomes were previously sequenced. b The subtelomeric regions of human chromosomes are particularly enriched for SVs of the variable number of tandem repeats (VNTR) and short tandem repeat (STR) types. Here, the frequency of black dots along the length of the chromosome indicates the relative density of SVs. c About 15% of the discovered SVs can be found in more than 50% of the samples studied, indicating that these sites actually harbor minor alleles or errors in the current reference genome. d Ultimately, a human pan-reference genome can be developed using genome graphs (or other methods) to represent common SVs accurately. DEL deletion, INS insertion, INV inversion