TABLE 5.
Rare germline CNVs containing coding regions and copy neutral events (>10 Mb) detected by whole-exome sequencing.
| ID | Genomic Coordinates (GRCh37) | Cytoband | Lenght (pb) | Event | Classification |
|---|---|---|---|---|---|
| P01 | chr14:39878443-50253620 | 14q21.1q21.3 | 10375178 | ROH | N/A |
| P02 | chr12:13243647-26779469 | p13.1p11.23 | 13535823 | ROH | N/A |
| P04 | chr3:155563877-169430359 | q25.31q26.2 | 13866483 | ROH | N/A |
| chr5:82871986-93727017 | q14.3q15 | 10855032 | ROH | N/A | |
| P05 | chr3:148784725-159539084 | q24q25.33 | 10754360 | ROH | N/A |
| P16 | chr1:30815910-44569110 | p35.2p34.1 | 13753201 | ROH | N/A |
| chr1:100623391-117602935 | p21.2p13.1 | 16979545 | ROH | N/A | |
| chr4:38830037-49064655 | p14p11 | 10234619 | ROH | N/A | |
| chr5:49386907-76121142 | q11.1q13.3 | 26734236 | ROH | N/A | |
| chr7:27135316-43664239 | p15.2p13 | 16528924 | ROH | N/A | |
| chr8:30975883-43822511 | p12p11.1 | 12846629 | ROH | N/A | |
| chr8:46706294-91982327 | q11.1q21.3 | 45276034 | ROH | N/A | |
| chr11:75567951-93408344 | q13.5q21 | 17840394 | ROH | N/A | |
| chr13:77527773-113153328 | q22.3q34 | 35625556 | ROH | N/A | |
| chr16:55222478-65019075 | q12.2q21 | 9796598 | ROH | N/A | |
| chr16:69198915-89289425 | q22.1q24.3 | 20090511 | ROH | N/A | |
| chr17:1-5308028 | p13.3p13.2 | 5308028 | ROH | N/A | |
| chr17:53853305-65025445 | q22q24.2 | 11172141 | ROH | N/A | |
| chr18:1339613-12110120 | p11.32p11.21 | 10770508 | ROH | N/A | |
| chr18:60985801-78077248 | q21.33q23 | 17091448 | ROH | N/A | |
| P18 | chr1:165649300-197321158 | q24.1q31.3 | 31671859 | ROH | N/A |
| chr3:75431870-91000000 | p12.3q11.1 | 15568131 | ROH | N/A | |
| chr6:90497518-105697034 | q15q21 | 15199517 | ROH | N/A | |
| chr8:2055270-24208142 | p23.3p21.2 | 22152873 | ROH | N/A | |
| chr13:28538303-42485700 | q12.2q14.11 | 13947398 | ROH | N/A | |
| chr13:52351088-95062039 | q14.3q32.1 | 42710952 | ROH | N/A | |
| chr16:78439762-90354753 | q23.1q24.3 | 11914992 | ROH | N/A | |
| P19 | chrY:2787139-26671311 | Yp11.2q12 | 23884173 | aneuploidy | pathogenic (Jacob syndrome), de novo |
| P18 | chr14:64193920-64700120 | q23.2 | 506,201 | CN Gain | variant of uncertain significance (VUS), maternal |
| P07 | chr11:93063308-93583708 | q21 | 520,401 | CN Gain | likely benign |
| P09 | chr1:19,849,733-20154295 | p36.13 | 304,563 | CN Gain | likely benign |
| P15 | chr21:40555024-40569195 | q22.2 | 14172 | CN Loss | likely benign |
| P21 | chr15:22612422-23288771 | q11.2 | 676,350 | CN Loss | risk factor neurodevelopmental disease (https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-37448/OMIM #615656 CHROMOSOME 15q11.2 DELETION SYNDROME), paternal |
| P28 | chr15:22740164-23685606 | q11.2 | 945,443 | CN Gain | risk factor neurodevelopmental disease (https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-37448), paternal |
| P30 | chr1:39878521-39879833 | p34.3 | 1,313 | CN Gain | likely benign |
ROH: copy-neutral region of homozigozity; N/A: not applicable.