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Copy Number Variation (CNV)

Differences in the number of copies of a particular DNA sequence within a genome, impacting gene dosage and potentially contributing to disease.
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The statement of the theorem

Let Ci,jC_{i, j} be the copy number of a specific DNA sequence segment ii in sample jj. The Copy Number Variation (CNV) is assessed by comparing the observed copy number Ci,jC_{i, j} against a baseline or reference copy number Ci,refC_{i, ref}. The deviation is typically quantified using the log-ratio method: log⁡2(Ri,j)=log⁡2(Ci,jCi,ref)\log_2(R_{i, j}) = \log_2\left(\frac{C_{i, j}}{C_{i, ref}}\right) \nWhere Ri,jR_{i, j} is the ratio of copy numbers. A CNV is indicated if log⁡2(Ri,j)\log_2(R_{i, j}) deviates significantly from zero, suggesting amplification (log⁡2(Ri,j)>0\log_2(R_{i, j}) > 0) or deletion (log⁡2(Ri,j)<0\log_2(R_{i, j}) < 0).