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. 2018 Apr 30;115(20):5247–5252. doi: 10.1073/pnas.1714885115

Table 2.

Specific singleton CNVs (>1 Mb)

Genomic coordinates (hg19) Loss/gain Size, Mb Patient ID Phenotype Confirmatory testing
chr4:43284–49244506 Gain 49.2 C119 Hypoplastic left heart syndrome, stillbirth Karyotype: 47, XX, +der(4)t(4,5)(q21; q35)
chr4:52742992–70765489 Gain 18.2
chr5:177047523–180699183 Gain 3.6
chr11:65440233–114273551 Gain 48.8 C146 Multiple congenital anomalies, additional details unknown Confirmed by ddPCR and read depth data from WES
chr18:52948800–77967778 Loss 25.0 C5 Morgagni hernia, cleft palate, brachydactyly, dysmorphisms, short stature, microcephaly, moderate developmental delay Confirmed by ddPCR and karyotype: 46, XX, del(18)(q21.2)
chr3:66478–12304371 Loss 12.2 C86 Seizures, partial agenesis of corpus callosum, dysmorphic facial features Confirmed by ddPCR and clinical aCGH: del 3p26.3-p25.2
chr15:93825922–102465355 Loss 8.6 C148 Multiple congenital anomalies, additional details unknown Karyotype: 46, XX, der(15)t(1;15)(q44; q26.3)mat
chr16:14714766–18844674 Gain 4.1 C158 No phenotypic data available Confirmed by ddPCR and read depth data from WES