Skip to content

Deletion

Definition
AI-generated

A deletion is a variant in which one or more bases present in the reference genome are absent in the sample sequence at a locus.

Topics
Core genetics
Related
Copy Number Variant (CNV) Indel Structural Variant

Why it matters in GWAS

Deletions can remove coding or regulatory sequence and range from short indels to large structural events with substantial phenotypic effects.

Example usage

"The locus contained a deletion that was poorly tagged by nearby SNPs on the array."

Copy Number Variant (CNV) Indel Structural Variant Variant Annotation
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Koboldt DC. (2020). Best practices for variant calling in clinical and population sequencing. Nat Methods.
← Deimination Demography →

Last updated (UTC · Git history)