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Structural Variant

Definition
AI-generated

A structural variant is a large genomic alteration such as a deletion, duplication, inversion, translocation, or complex rearrangement.

Topics
Core genetics
Related
Copy Number Variant (CNV) Deletion Duplication

Why it matters in GWAS

Structural variants can have large functional effects but are often poorly captured by SNP arrays, standard imputation panels, and short-read analyses focused on small variants.

Example usage

"Follow-up sequencing suggested that the signal was driven by a structural variant rather than a single tagged SNP."

Copy Number Variant (CNV) Deletion Duplication Inversion Repeat Expansion Tandem Repeat Translocation
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

  • Sudmant PH, et al. (2015). An integrated map of structural variation in 2,504 human genomes. Nature.
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