De novo CNV alterations in each family member | |||||||
---|---|---|---|---|---|---|---|
Small CNV (1-3kbp) | Large CNV losses (1–2 Mbp) | ||||||
CNV losses (autosomes/sex chrom) | CNV gains (autosomes/sex chrom) | ||||||
Number | Previously known | New “de novo” | Number | Previously known | New “de novo” | Number | |
Father | 221 | 190/31 | 18/6 | 142 | 23/119 | 1/36 | 89 |
Mother | 316 | 272/44 | 39/9 | 209 | 33/176 | 6/53 | 105 |
Daughter | 352 | 261/92 | 34/25 | 421 | 68/353 | 5/108 | 106 |
Son (patient) | 260 | 228/32 | 31/6 | 177 | 28/149 | 28/149 | 95 |