Skip to main content

Advertisement

Table 8 Large abnormalities in cleft samples

From: Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method

CIDR_Name Chr Loc Type PO SNPs Inf Det mBAF LRR #Reg
12254_01 16 pT UPiD M 3830 574 MI1 0.51 −0.037 1
12254_01 16 pC,q UPhD M 13095 971 POD 0.50 −0.027 2
16194_01 10 qT DEL F 2578 431 MI1 0.94 −0.475 1
17008_01 2 W UPiD F 49497 6727 MI1 0.87 0.008 2
18113_01 11 qT DEL F 1883 337 MI1 0.88 −0.408 1
19004_01 13 qT AMP F 13467 1776 POD 0.64 0.240 1
19143_01 18 qT DEL F 4150 613 MI1 0.92 −0.521 3
20127_01 11 qT UPiD F 16191 2064 POD 0.55 0.004 1
20183_01 13 qT UPiD F 21216 2505 POD 0.56 0.022 1
21089_01 20 q UPiD M 7420 937 POD 0.58 −0.018 1
21098_01 21 q UPhD M 8817 588 POD 0.50 0.003 1
21186_01 17 q NA F(C) 10102 422 POD 0.52 0.012 1
21230_01 11 pI AMP M 4836 380 POD 0.64 0.227 1
23020_01 18 qT DEL F 4358 672 MI1 0.89 −0.614 1
  1. CIDR_Name sample identifier from the Center for Inherited Disease Research; Loc the location of the abnormality on the chromosome (p=p arm, q=q arm, W=entire chromosome, T=telomeric end, C=centromeric end, I=interstitial); PO parental origin (F=paternal origin, M=maternal origin, F(C)=paternal contribution, M(C)=maternal contribution); SNPs=number of SNPs in the detected region; Inf=number of SNPs in the detected region which were informative for the detection algorithm; Det=detection algorithm; #Reg=the number of separate regions reported within a single large abnormality.