Table 3 Sequences of the primers used for quantifying the number of copies of 5q35.2-5q35.3, along with coordinates for each amplified genomic region (HG18), its relative position with regard to the start point of the duplication, and the number of copies detected in the proband
Primer name | Primer sequence | Chromosomal band | Coordinates of the amplicon (HG18) | No of copies detected in the proband | Position of the amplicon in ref. to the start of the duplication |
|---|---|---|---|---|---|
5q35.2_A1_F | AACAGGCTCACGCCTTCTTA | 5q35.2 | 175182611 - 175182696 | 2 | - 61 kb |
5q35.2_ A1_R | GAAGCACCCAACACATCCTT | ||||
5q35.2_ A2_F | CCTTACCAGCAGGGACACAT | 5q35.2 | 175201237 - 175201316 | 2 | - 42 kb |
5q35.2_ A2_R | CATGGCCCTCCTACACATCT | ||||
5q35.3_B1_F | GTGGAATGATCACGATGCTG | 5q35.3 | 175286270 - 175286357 | 3 | + 43 kb |
5q35.3_ B1_R | TGCACAGTCCAACAGACACA | ||||
5q35.3_ B2_F | CTGCTCAGCGGGATCTATGT | 5q35.3 | 176356609 - 176356696 | 3 | + 1,12 Mb |
5q35.3_ B2_R | TCAAGTCTGCCCCAACTCTT | ||||
5q35.3_ B3_F | CCAATCCTGGCATGAGACTT | 5q35.3 | 179355063 - 179355146 | 3 | + 4,12 Mb |
5q35.3_ B3_R | GCAAACTGTGTGGGAATCCT |