Table 2.
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 5′UTR; UTR3: number of CNVs in 3′UTR; 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.