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AlternateBases.md

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beacon-v2 AlternateBases [ ↗ ]

{S}[B] Status [i]
proposed
Provenance
Contributors
Source (2.0.0-draft.3)

Attributes

Type: string
Pattern: ^([ACGTN]*)$
Description: Alternate bases for this variant (starting from start).

  • Accepted values: [ACGTN]*.
  • N is a wildcard, that denotes the position of any base, and can be used as a standalone base of any type or within a partially known sequence. As example, a query of ANNT the Ns can take take any form of [ACGT] and will match ANNT, ACNT, ACCT, ACGT ... and so forth.
  • an empty value is used in the case of deletions with the maximally trimmed, deleted sequence being indicated in ReferenceBases
  • Categorical variant queries, e.g. such not being represented through sequence & position, make use of the variantType parameter.
  • either alternateBases or variantType is required.