99-Case Study of Sporadic Aortic Dissection by Whole Exome Sequencing Indicated Novel Disease-Associated Genes and Variants in Chinese Population

Table 2

CNV identification.

Var type	Total number	CDS	Splicing	UTR5	UTR3	Intron	Upstream	Downstream	ncRNA	Intergenic	Unknown
Total	1177	1031	0	0	0	2	1	0	77	66	0
Del	239	197	0	0	0	0	0	0	18	24	0
Dup	938	834	0	0	0	2	1	0	59	42	0

Dup: increased copies of CNV; Del: reduced number of copies; CDS: number of CNVs in coding sequence; splicing: number of CNVs in splicing region (±10 bp of splicing site); UTR5: number of CNVs in 5UTR; UTR3: number of CNVs in 3UTR; intron: number of CNVs in the intron region; upstream: number of CNV in 1 Kb region upstream of transcription start site; downstream: number of CNV in downstream 1 Kb region of transcription termination site; ncRNA: number of CNV in noncoding RNA region; intergenic: number of CNV in the intergenic region; unknown: unknown functional loci due to the imperfection of the annotation database of gene structure.