| Internal ID | 15163214 |
| Landmark | |
| Location Information | |
| Cytoband | 2p21 |
| Allele length | | Assembly | Allele length | | hg38 | 383369 | | hg19 | 383369 | | hg18 | 383369 | | hg17 | 383369 |
|
| Variant Type | CNV gain |
| Copy Number | 3 |
| Allele State | |
| Allele Origin | |
| Probe Count | |
| Validation Flag | |
| Merged Status | S |
| Merged Variants | nsv457174 |
| Supporting Variants | |
| Samples | HGDP01104 |
| Known Genes | ABCG5, ABCG8, DYNC2LI1, LRPPRC, PLEKHH2 |
| 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) | nssv534419
|
| Frequency | | Sample Size | 1557 | | Observed Gain | 1 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
|
