| Internal ID | 20149190 |
| Landmark | |
| Location Information | |
| Cytoband | 15q15.3 |
| Allele length | | Assembly | Allele length | | hg38 | 126366 | | hg19 | 126366 |
|
| Variant Type | CNV loss |
| Copy Number | |
| Allele State | |
| Allele Origin | |
| Probe Count | |
| Validation Flag | |
| Merged Status | M |
| Merged Variants | |
| Supporting Variants | esv3581664, esv3581659, esv3581663 |
| Samples | 402038MR, 401262RR, 400624RJ |
| Known Genes | CATSPER2, CATSPER2P1, CKMT1A, STRC |
| Method | SNP array |
| Analysis | We used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection. |
| Platform | Affymetrix CytoScan HD 2.7M array |
| Comments | |
| Reference | Uddin_et_al_2014 |
| Pubmed ID | 25503493 |
| Accession Number(s) | dgv734e212
|
| Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 3 | | Observed Complex | 0 | | Frequency | n/a |
|
