Table 2 Copy number variants of unknown significance
CNV Nr. | Type of aberration | BAC Clone-ID | Genome position Hg18 | Maximal size of aberration | Chromosomal region | Interpretation |
|---|---|---|---|---|---|---|
Start | ||||||
End | ||||||
1 | Deletion (2 clones) | RP5-998N21 | 147,596,844-147,726,269 | 0.568 Mb | 1q21.1q21.2 | Unknown significance, Not overlapping with the recurrent deletion in the 1q21.1 syndrome |
RP11-196G18 | 147,976,465-148,165,420 | |||||
2 | Duplication (4 clones) | RP11-20B3 | 3,055,343-3,213,642 | 0.656 Mb | 5p15.33 | Unknown significance, Region deleted in cri-du-chat syndrome |
CTD-2012M11 | 3,558,697-3,712,084 |