|
| Status |
Public on Mar 03, 2015 |
| Title |
CNV and ROH analysis of patients with a region of triplication followed by a terminal region of ROH and their parental samples |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
SNP genotyping by SNP array
|
| Summary |
These samples include 4 patients with a triplication/ROH combination on: (1) chromosome 6, (2) chromosom 9, (3) chromosome 10, (4) chromosome 14
|
| |
|
| Overall design |
All arrays contain single hybridisations of either patient or parental samples
|
| |
|
| Contributor(s) |
Pfundt R, Carvalho Fonseca CM |
| Citation(s) |
25799105 |
| |
| Submission date |
Jan 20, 2015 |
| Last update date |
Jul 13, 2018 |
| Contact name |
Rolph Pfundt |
| E-mail(s) |
Rolph.Pfundt@radboudumc.nl
|
| Organization name |
RUNMC
|
| Department |
Genetics
|
| Lab |
Genome Diagnostics
|
| Street address |
Geert Grooteplein Zuid 6
|
| City |
Nijmegen |
| ZIP/Postal code |
6525GA |
| Country |
Netherlands |
| |
|
| Platforms (2) |
| GPL3718 |
[Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array |
| GPL16131 |
[CytoScanHD_Array] Affymetrix CytoScan HD Array |
|
| Samples (14)
|
|
| Relations |
| BioProject |
PRJNA273013 |
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