在germline mutation里，SNV和CNV的概念和区别？ - 知乎
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snv single nucleotide variation 单核苷酸变异 cnv copy number variation 拷贝数变异. 相对而言cnv是整个基因片段在基因组上的复制，涉及区域比单点突变的snv要大的多。 但数量上snv远远比cnv要多。
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