| Internal ID | 15172352 |
| Landmark | |
| Location Information | |
| Cytoband | 2q13 |
| Allele length | | Assembly | Allele length | | hg38 | 30214 | | hg19 | 30214 | | hg18 | 30214 | | hg17 | 30214 |
|
| Variant Type | CNV loss |
| Copy Number | |
| Allele State | |
| Allele Origin | |
| Probe Count | |
| Validation Flag | |
| Merged Status | M |
| Merged Variants | |
| Supporting Variants | nssv535822 |
| Samples | HGDP00116 |
| Known Genes | NPHP1 |
| 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) | nsv458973
|
| Frequency | | Sample Size | 1557 | | Observed Gain | 0 | | Observed Loss | 1 | | Observed Complex | 0 | | Frequency | n/a |
|
