拷贝数中Minor Allele、A Allele、major allele、B Allele都是啥?

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 thresholds to only display CNVs which are high level amplifications, homozygous deletions, or where there has been 'substantial loss' within an otherwise duplicated genome. We also use a higher

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