Table 3 Summary of SVs in eight human assemblies compared with GRCh38.

From: An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes

Assembly

Total SVs

Novel SVs (insertions and deletions only; %)

SVs in repetitive regions (%)

SVs in segmentally duplicated regions (%)

Assembly specific SVs (insertions and deletions only; %)

SVs shared with the CHM1 PacBio read mapping results (insertions and deletions only; %)

KOREF_CS,L,M

9,838

8,392 (85.7)

6,992 (71.1)

912 (9.3)

6,691 (68.3)

955 (9.7)

MongolianS

12,830

10,775 (87.7)

8,929 (69.6)

1,242 (9.7)

9,101 (74.1)

834 (6.8)

YH_2.0S

5,027

4,664 (93.8)

4,119 (81.9)

633 (12.6)

3,063 (61.6)

148 (3.0)

CHM1_PacBio_r2L

3,454

3,130 (92.0)

2,340 (67.7)

1,002 (29.0)

2,448 (72.0)

301 (8.8)

CHM1_1.1S,B

3,926

3,258 (83.7)

2,848 (72.5)

394 (10.0)

2,800 (71.9)

487 (12.5)

NA12878_singleL,M

4,859

4,171 (86.7)

3,339 (68.7)

1,041 (21.4)

3,492 (72.6)

400 (8.3)

NA12878_AllpathsS

5,179

4,649 (91.0)

4,014 (77.5)

378 (7.3)

3,787 (74.1)

269 (5.3)

AfricanS

10,772

10,026 (94.0)

8,362 (77.6)

425 (3.9)

8,935 (83.8)

212 (2.0)

  1. NGS, next-generation sequencing. Major sequencing and mapping data used in the assembly are marked by superscript letters: B, indexed BAC end sequences; L, long reads; M, genome maps; S, NGS short reads.