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Duplication

Definition
AI-generated

A duplication is a variant in which a genomic segment is present in extra copy relative to the reference genome.

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

Why it matters in GWAS

Duplications can alter gene dosage and are a common class of structural and copy number variation.

Example usage

"A recurrent duplication overlapping the gene was detected in the sequencing follow-up."

Copy Number Variant (CNV) Structural Variant 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.
← Duplicate read East Asian super-population (EAS) →

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