Table 1

Subtelomeric copy number changes identified in positive controls

Positive control for probeLaboratory of originVariant identified by cytogenetics (MAPH p value, reported as)Variant not identified by cytogenetics (MAPH p value, reported as)
ST14A2Sheffield4p del (2.74×10−11 positive)
ST4C3DMGN3p del (9.62×10−6 positive)
ST18F2DMGN7q del (5.40×10−4 retest)
ST10C7DMGN16q dup (1.04×10−4 retest)
ST8A4DMGN18p del (1.16×10−4 positive)10p dup (9.73×10−3, retest)
5p dup (0.125, retest)
20p del (0.113, retest)
ST18C1CCR9p dup (2.70×10−3 retest)
ST5C3Sheffield8p dup (8.51×10−8 positive)
ST17H7DMGNXqYq dup (3.47×10−5 retest)
ST10D1DMGN17q del (3.42×10−6 positive)
ST4A4ECCAC2q del (1.05×10−10 positive)6q dup (3.13×10−3 retest)
ST17A1ECACC1q del (6.11×10−4 retest)4p dup (6.44×10−7 positive)
ST17H1CDMGNXpYp dup (2.27×10−9 retest)
ST18B1DMGN5p del (0.0108 retest)8q dup (3.45×10−8 positive)
8p del (5.86×10−7 positive)
10p del (0.0147 retest)
5q del (0.0228 retest)
ST16A2DMGNXpYp dup (7.23×10−25 retest)