Figure 1

Frequency of variant and invariant repeats. (a) Histogram of the frequencies of different length repeat units in the dataset. Repeats that are multiples of three occur at greater frequency across both variant and non-variant repeats. Mononucleotide repeats were not included in the analysis. Variants represent differences between the representative and the alleles that are a multiple of the unit length and consistent with a change in repeat copy-number. N, number of identified length variants (295 variants observed in 249 tandem repeats in 218 genes). For the non-variant repeats, N represents the number of unique invariant repeats. The x-axis is on a logarithmic scale. (b) Breakdown of repeat variants by the type of variant. Unit lengths 2 to 20 are shown here, encompassing 288 of the 295 variants. Areas in black above bars 2 and 4 represent variants of units this length that are also a multiple of three.