Table 1.
Recurrent copy-number variant (CNV) regions identified in cases but absent in controlsa
| CNV Regiona | Case CNVs | Carcinoid Control CNVs | Additional population- based control CNVsb | CNV Type | Gene contents | Addn contrlsd | Addn controlse |
|---|---|---|---|---|---|---|---|
| Chr9: 137.3Mb-137.4 Mb | 4/239 | 0/107 | 11/1512 | Duplication | C9orf62 | 11/871 | 22/2621 |
| Chr10: 81.6-81.9 Mb | 3/239 | 0/107 | 7/1512 | Both§ | SFTPD, C10orf57, Plac9 | 1/871 | 46/2621 (7 duplications and 39 deletions) |
| Chr16: 15.4-16.8 Mb | 2/239 | 0/107 | 2/1512 | Duplication | C16orf45, KIAA0430, NDE1, MYH11, C16orf63, ABCC1, ABCC6 | 1/871 | 84/2621 |
| Chr18: 64.00-64.04 Mb | 5/239 | 0/107 | 0/1512 | Deletion | Intergenic | 9/871 | 24/2621 |
a
This is the minimum region of overlap for all case CNVs aligned to hg18/Build 36.
b
These are Caucasian samples genotyped on Illumina 370K chips for another study. Listed CNVs must have at least 50% overlap with the defined case CNV region (i.e. column 1).
c
Two cases showed duplication of this locus and one showed deletion. All seven population-based control CNVs were duplications
d
Controls from meningioma data genotyped on Illumina 610-Quad
e
Controls from the schizophrenia/bipolar dbGaP dataset on the Affymetrix 6.0 chip