Table S4. PTPRD CNV validation
Sample / Status / Gene / Quantity / Qty Mean / Qty StdDev / [Sas/Cas]/[Salb/Calb]1130-142-3 / Proband / Albumin / 35.69320 / 35.58634 / 0.15112
130-142-3 / Proband / Albumin / 35.47948 / 35.58634 / 0.15112
130-386-1 / Proband / Albumin / 16.11467 / 16.22563 / 0.15692
130-386-1 / Proband / Albumin / 16.33659 / 16.22563 / 0.15692
130-386-2 / Parent / Albumin / 22.52316 / 22.51366 / 0.01342
130-386-2 / Parent / Albumin / 22.50418 / 22.51366 / 0.01342
GM10540 / Control / Albumin / 43.67635 / 44.53156 / 1.20945
GM10540 / Control / Albumin / 45.38677 / 44.53156 / 1.20945
130-142-3 / Proband / PTPRD / 20.75937 / 19.59697 / 1.124865 / 0.50230
130-142-3 / Proband / PTPRD / 19.51770 / 19.59697 / 1.124865
130-142-3 / Proband / PTPRD / 18.51384 / 19.59697 / 1.124865
130-386-1 / Proband / PTPRD / 8.837964 / 8.44795 / 0.35123 / 0.47491
130-386-1 / Proband / PTPRD / 8.15661 / 8.44795 / 0.35123
130-386-1 / Proband / PTPRD / 8.34927 / 8.44795 / 0.35123
130-386-2 / Parent / PTPRD / 25.82964 / 25.04998 / 1.10260 / 1.01489
130-386-2 / Parent / PTPRD / 24.27033 / 25.04998 / 1.10260
130-386-3 / Parent / PTPRD / 5.23599 / 5.41637 / 0.17688 / 0.48388
130-386-3 / Parent / PTPRD / 5.58952 / 5.41637 / 0.17688
130-386-3 / Parent / PTPRD / 5.42360 / 5.41637 / 0.17688
GM10540 / Control / PTPRD / 49.86139 / 48.82119 / 2.47178 / 1.09633
GM10540 / Control / PTPRD / 50.60287 / 48.82119 / 2.47178
GM10540 / Control / PTPRD / 45.99931 / 48.82119 / 2.47178
1 [Sas/Cas]/[Salb/Calb], Ratio of the quantity determined for the CNV divided by the quantity determined for the control (albumin). The data is normalized by dividing the values obtained for each subject by the values from the respective control sample. The control sample was selected based on presence of normal copy number (i.e., 2) for the given CNV.
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