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Table 4 Concordance of ClinSV with pathogenic variants from aCGH. Comparison of pathogenic CNVs identified by aCGH and WGS using ClinSV on matched DNA from the same patients. Eleven patients with known pathogenic variants were compared. Genomic coordinates are listed compared to the GRCh37 reference genome build. Sample A4 had a large CNV identified by aCGH, which was disrupted by a 7.3-kb diploid region in the middle

From: ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data

Sample aCGH calls WGS calls
A1 22q11.21 (18,894,835–21,505,417) × 1 del(22)(q11.21q11.21) chr22:g.18,873,701_21,466,500del
A2 22q11.21 (18,894,835–21,505,417) × 3 dup(22)(q11.21q11.21) chr22:g.19,025,201_21,502,400dup
A3 15q11.2q13.1 (23,656,936–28,559,402) × 1 del(15)(q11.2q13.1) chr15:g.23,679,001_28,659,900del
A4 15q11.2q13.3 (22,765,628–32,418,879) × 3–4 dup(15)(q11.2q13.2) chr15:g.22,727,651_30,670,600dup, dup(15)(q13.2q13.3) chr15:g.30,677,901_32,679,700dup
A5 (X) ×1 del(X)(p22.33q28) chrX:g.pter_cen_qterdel
A6 (X) ×2,(Y) ×1 dup(X)(p22.33q28) chrX:g:pter_cen_qterdup
A7 4p16.3 (1,832,643–1,994,922) ×1 del(4)(p16.3p16.3) chr4:g.1,830,325_1,996,237del
A8 16p11.2 (29,849,168–30,190,568) ×1 del(16)(p11.2p11.2) chr16:g.29,560,701_30,200,100del
A9 Xp22.33p22.31 (60,701–8,392,011) ×1, Yq11.221q12(16,188,682–59,335,913) × 1 der(X)t(X;Y)(p22.31;q11.221) g.[chrX:pter_8,434,700delinschrY:16,097,288_qterinv]
A10 Xp21.1 (32,714,410-32,868,014) × 0 del(X)(p21.1p21.1) chrX:g.32,707,584_32,871,077del
A11 15q11.2 (22,765,628-23,077,909) × 3 dup(15)(q11.2q11.2) chr15:g.22,727,651_23,377,700dup