Fig. 3
From: Clinical significance and mechanisms associated with segmental UPD
Graphic explanation of allele difference dosage plots in the Chromosome Analysis Suite (ChAS)® SNP software. Each SNP at a given genomic position is assigned either an A or B designation (dependent on the polymorphic base pair at that location) with A = 0.5 and B = − 0.5 and the final value equal to the sum of alleles at a particular genomic position. A A heterozygous diploid allele mix consists of either two A alleles (AA) with a value of 1, one A allele and one B allele (AB) with a value of 0, or two B alleles (BB) with a value of -1 that result in the three tracts shown. B A deletion shows either an A or B allele and only two tracts at a value of 0.5 or − 0.5. C A run of copy neutral homozygosity consists of only the AA or BB allele pattern with a value of 1.0 or − 1.0. D A 50:50 mix of two cell lines in which cell line 1 is heterozygous at a certain position and cell line 2 is homozygous at that position. Note that the heterozygous alleles are shifted away from the midline due to the homozygous admixture. E A duplication shows an AAA, AAB, ABB or BBB (4 tract) pattern with an allele difference value of 1.5, 0.5, − 0.5 or − 1.5. F A triplication with 2 identical maternal and paternal copies results in an AAAA, AABB, and BBBB allele pattern with an allele difference value of 2.0, 0 or − 2.0 and three allele tracts. Typical triplications have four or five allele tracts