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SNPs versus Paralogous Sequence Variants (PSVs). The left panel displays a SNP (T/G) in the population. The base type of the specific genomic location varies among individuals as some are homozygous and some are heterozygous. The right panel illustrates PSVs. Two copies of the segment, duplications, exist in the genome. These two duplicates possess a different but invariant base (T/G) at the position of interest. The PSV may be undistinguishable from the SNP in genotyping.
