. 2018 Oct 11;39(11):1690–1701. doi: 10.1002/humu.23637

Table 1.

Types of variants within the Registry

	Reference and alternated sequences	Region of alteration	Alternate allele	Reference allele
`SNV`	`ACTGTCGTG` `ACTGACGTG`	`[4, 5]`	`A`	`T`
`Insertion` ^a	`ACTG__TCGTG` `ACTGACTCGTG`	`[4, 4]`	`AC`	`(Empty)`
`Deletion`	`ACTGTCGTG` `ACT____TG`	`[3, 7]`	`(Empty)`	`GTCG`
`Indel` ^b	`ACTGTCGTG` `ACCAA_GTG`	`[2, 6]`	`CAA`	`TGTC`

Duplications are treated internally as a special type of insertion.

Inversions are treated internally as a special type of indel.