| Internal ID | 15512265 |
| Landmark | |
| Location Information | |
| Cytoband | 6q12 |
| Allele length | | Assembly | Allele length | | hg38 | 47250 | | hg19 | 47250 | | hg18 | 47250 | | hg17 | 47250 |
|
| Variant Type | CNV loss |
| Copy Number | 1 |
| Allele State | |
| Allele Origin | |
| Probe Count | |
| Validation Flag | |
| Merged Status | S |
| Merged Variants | nsv462968 |
| Supporting Variants | |
| Samples | NINDS_222 |
| Known Genes | EYS |
| Method | SNP array |
| Analysis | An HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives. |
| Platform | Not reported |
| Comments | |
| Reference | Itsara_et_al_2009 |
| Pubmed ID | 19166990 |
| Accession Number(s) | nssv539016
|
| Frequency | | Sample Size | 1557 | | Observed Gain | 0 | | Observed Loss | 1 | | Observed Complex | 0 | | Frequency | n/a |
|
