Table 4.

Copy number variations detection results.

Level	CNV	Type	Chr	Size	CopyRatio	Cytoband	Aneuploidy	Gene
Polymorphism	chr1:668342–672153_dup	Duplication	chr1	3.81Kb	2.72	p36.33	–
Polymorphism	chr1:879059–899623_dup	Duplication	chr1	20.57Kb	1.16	p36.33	–	SAMD11, NOC2L, KLHL17
Polymorphism	chr1:1221280–1249356_dup	Duplication	chr1	28.08Kb	1.14	p36.33	–	SCNN1D, ACAP3, PUSL1, INTS11
Polymorphism	chr1:1396089–1451457_dup	Duplication	chr1	55.37Kb	1.12	p36.33	–	ATAD3C, ATAD3B, ATAD3A
Polymorphism	chr6:29910345–29913411_dup	Duplication	chr6	3.07Kb	1.25	p22.1	–	HLA-A
VUS	chr9:139396643–139581860_dup	Duplication	chr9	0.19Mb	1.16	q34.3	–	NOTCH1, EGFL7, AGPAT2
Polymorphism	chr11:1031548–1090952_dup	Duplication	chr11	59.41Kb	1.17	p15.5	–	MUC6, LOC101927503, MUC2
Polymorphism	chr12:132391306–132401133_dup	Duplication	chr12	9.83Kb	1.12	q24.33	–	ULK1
Polymorphism	chr14:105408841–105419660_dup	Duplication	chr14	10.82Kb	1.1	q32.33	–	AHNAK2
Polymorphism	chr14:106054389–106208551_dup	Duplication	chr14	0.15Mb	1.39	q32.33	–
VUS	chr19:4510405–4513806_dup	Duplication	chr19	3.40Kb	1.14	p13.3	–	PLIN4
Polymorphism	chr22:18020069–18102275_dup	Duplication	chr22	82.21Kb	1.52	q11.21	–	CECR2, LOC101929372, SLC25A18, ATP6V1E1
Polymorphism	chr22:25713983–25961264_dup	Duplication	chr22	0.25Mb	1.42	q11.23-q12.1	–	LRP5L, GRK3
VUS	chr1:152595355–152785061_del	Deletion	chr1	0.19Mb	0.88	q21.3	–	LCE3A, LCE2D, LCE2C, LCE2B, LCE2A, LCE4A, C1orf68, KPRP, LCE1F, LCE1E, LCE1D, LCE1C, LCE1B
Polymorphism	chr5:180376224–180429913_del	Deletion	chr5	53.69Kb	0	q35.3	–	BTNL8, BTNL3
Polymorphism	chr10:124343759–124351967_del	Deletion	chr10	8.21Kb	0.51	q26.13	–	DMBT1
Polymorphism	chr11:55370904–55406945_del	Deletion	chr11	36.04Kb	0	q11	–	OR4C11, OR4P4
Polymorphism	chr12:9455172–9464465_del	Deletion	chr12	9.29Kb	0.82	p13.31	–
Polymorphism	chr12:52840964–52909065_del	Deletion	chr12	68.10Kb	0.92	q13.13	–	KRT6B, KRT6C, KRT6A, KRT5