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Table 3 Characteristics of the high-quality true-positive CNV dataset as defined by the SNP array

From: A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

 

Characteristics of the baseline truth CNVs defined by the SNP array

Deletion

Duplication

Number of CNVs

180

299

Size

2.1 kb to 3.1 Mb (mean = 160 kb, median = 57 kb)

6 kb to 1.8 Mb (mean = 202 kb, median = 94 kb)

No. of SNP probes

10 to 2258 (mean = 67, median = 20)

10 to 774 (mean = 62, median = 29)

No. of exons overlapping the CNV

1 to 464 (mean = 15, median = 9)

1 to 359 (mean = 19, median = 11)

Small CNVs (< 4 exons)

36 (20%)

68 (23%)

Clinically reported CNVs

24 (13%)

17 (6%)