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本文介绍了拷贝数变异（CNV）中Minor Allele（最少出现的等位基因）和Copy Number（主要等位基因与次要等位基因数量之和）的概念。在CNV分析中，Minor Allele指的是频率较低的等位基因，如ABB情况下为A（1份）。Copy Number则是次要和主要等位基因数量总和，如ABB的Copy Number为3。此外，还讨论了增益和损失的定义，以及如何根据平均基因倍数来判断这些变化。
This tab shows an overview of the data for the specified CNV (Copy Number Variant) with links to the COSMIC Genome Browser, Ensembl and ChromoView where all the CNVs on this chromosome can be viewed for the sample.
Definition of Minor Allele and Copy Number in tables:
- Minor Allele: the number of copies of the least frequent allele eg if ABB, minor allele = A ( 1 copy，A Allele) and major allele = B ( 2 copies，B Allele)
- Copy Number: the sum of the major and minor allele counts eg if ABB, copy number = 3
Definition of Gain and Loss:
We have introduced filtering th
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