Patient | Type | Size (kb) | Aroma coordinates | Chromosomal band | DGV* | Inheritance |
SRS-ue-10 | Dup | 291 | chr6:95408269-95699306 | 6q16.1 | Yes | De novo |
SRS-ue-9 | Del | 655 | chr10:46557002-47212082 | 10q11.22 | Yes | De novo |
SRS-hypo-5 | Dup | 22 | chr11:18905796-18927562 | 11p15.1 | Yes | De novo |
SRS-hypo-7 | Del | 113 | chr11:114661286-114773745 | 11q23.2 | No | De novo |
SRS-ue-10 | Dup | 1631 | chr15:18446422-20077554 | 15q11.2 | Yes | De novo |
SRS-ue-1 | Dup | 1499 | chr15:18446422-19945295 | 15q11.2 | Yes | De novo |
SRS-ue-6 | Del | 2595 | chr15:97020968-99616263 | 15q26.3 | Yes† | De novo |
SRS-ue-2 | Del | 9 | chr17:41006823-41015758 | 17q21.31 | Yes | De novo |
SRS-ue-8 | Dup | 9 | chr17:41006823-41015758 | 17q21.31 | Yes | De novo |
SRS-hypo-2 | Dup | 597 | chr17:41569489-42166282 | 17q21.31-32 | Yes | De novo |
SRS-ue-8 | Dup | 189 | chr17:41522318-41711411 | 17q21.31 | Yes | De novo |
SRS-ue-4 | Del | 1140 | chr22:20136401-21276825 | 22q11.21-22 | Yes† | De novo |
SRS-ue-5 | Dup | 2686 | chrX:18654-2704240 | Xp22.33 | Yes† | De novo |
SRS-ue-1 | Del | 27 | chr6:29979615-30006876 | 6p21.33 | Yes | Paternal |
SRS-ue-2 | Dup | 190 | chr6:118811259-119001486 | 6q22.31 | No | Paternal |
SRS-hypo-1 | Del | 383 | chr6:161856224-162239135 | 6q26 | Yes† | Maternal |
SRS-ue-8 | Dup | 743 | chr8:76760217-77503286 | 8q21.11 | Yes† | Maternal |
SRS-ue-3 | Dup | 122 | chr8:87282004-87404313 | 8q21.3 | Yes† | Paternal |
SRS-ue-2 | Dup | 695 | chr10:61909390-62604502 | 10q21.2 | Yes† | Maternal |
SRS-ue-5 | Del | 660 | chr12:91334425-91994189 | 12q22 | No | Maternal |
SRS-ue-3 | Dup | 346 | chr12:130572244-130918252 | 12q24.33 | Yes | Paternal |
SRS-ue-5 | Dup | 219 | chr14:19272965-19492423 | 14q11.2 | Yes | Maternal |
SRS-ue-11 | Dup | 219 | chr14:19272965-19492423 | 14q11.2 | Yes | Maternal |
SRS-hypo-2 | Dup | 214 | chr14:19272965-19487234 | 14q11.2 | Yes | Paternal |
SRS-ue-3 | Dup | 175 | chr14:19272965-19447789 | 14q11.2 | Yes | Paternal |
SRS-ue-11 | Del | 144 | chr14:82521875-82666151 | 14q31.1-2 | Yes† | Paternal |
SRS-ue-6 | Dup | 33 | chr17:31463252-31496575 | 17q12 | Yes | Maternal |
SRS-ue-9 | Dup | 33 | chr17:31463252-31496575 | 17q12 | Yes | Paternal |
SRS-hypo-6 | Dup | 663 | chr17:41560151-42223353 | 17q21.31-32 | Yes | Maternal |
SRS-hypo-6 | Del | 2 | chr17:51518046-51520028 | 17q22 | Yes | Paternal |
SRS-hypo-1 | Del | 65 | chr17:61847708-61912613 | 17q24.2 | No | Paternal |
SRS-ue-6 | Dup | 248 | chr22:20652138-20900417 | 22q11.22 | Yes | Paternal |
SRS-ue-7 | Dup | 396 | chr22:23980648-24376513 | 22q11.23 | Yes | Paternal |
↵* The region has been reported to the database of genomic variants (DGV; http://projects.tcag.ca/variation/).
↵† Means that there are CNVs within the region, but they are not covering the whole region.
CNV, copy number variant; SRS, Silver–Russell syndrome.