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