Table 2. Pathogenic chromosomal copy number changes and imbalance rearrangements identified by SeqSeq analysis which have been validated by arrayCGH.

Array No.	Karyotype	arrayCGH	Segseq
A10071659	46,XY	deletion at 13q32.3q33.3(97091318∼106466788)	deletion at chr13: 97075576∼106516365(9.4 M)
A10021390	46,XY,der(5)t(5;18)(p13;q12.3)	deletion at 5p15.3∼p13.2(183931∼36816731);duplication at 18p12.3∼q23(39086755∼76067279)	deletion at chr5: 1∼36861739(36.9 M);duplication at chr18: 38768509∼76117152(37.3 M)
A10021383	46,XY,2q+	duplication at 2q36∼q37.3(230369496∼242444380)	duplication at chr2: 230288772∼242427293(12.1 M)
A11091844	46,XX	deletion at 3q29(197216353∼198770242)	deletion at chr3: 197372027∼198831453(1.4 M)
A10071710	46,XY	deletion at 22q11.21(17289032∼19636115)	deletion at chr22: 17396815∼20248184(2.8 M)