. Author manuscript; available in PMC: 2020 Jan 4.

Published in final edited form as: N Engl J Med. 2019 Jul 4;381(1):64–74. doi: 10.1056/NEJMra1809315

Table 1.

Classes of Human Genetic Variation.^*

Class	Size of Variant	No. per Genome^†	Size of Region Affected	Percent of Genome
	bp		Mbp
Single-nucleotide variants	1	4,000,000–5,000,000	4–5	0.078
Insertions-deletions	1–49	700,000–800,000	3–5	0.069
Structural variants	>50	23,000–28,000	10–12	0.19
Inversions	>50	153^‡	23^‡	0.397
Multi-copy-number variants^§	>1000	Approximately 500	12–15	0.232

Data are from the 1000 Genomes Project Consortium,⁸ Sudmant et al.,^10–12 Huddleston et al.,¹³ and Chaisson et al.^14,15

^†

The data reflect numbers of mutational events in a diploid human genome (consisting of approximately 5.8 Gbp of euchromatin DNA).

^‡

The mean value is shown.

^§

Multi-copy-number variants are a subset of structural variants that have not been completely resolved; they are enriched in segmental duplications but do not include heterochromatic regions of centromeric and acrocentric DNA.