| Internal ID | 16407453 |
| Landmark | |
| Location Information | |
| Cytoband | 8p22 |
| Allele length | | Assembly | Allele length | | hg38 | 8006 | | hg19 | 8006 | | hg18 | 7997 | | hg17 | 7997 |
|
| Variant Type | CNV loss |
| Copy Number | |
| Allele State | |
| Allele Origin | |
| Probe Count | |
| Validation Flag | |
| Merged Status | M |
| Merged Variants | |
| Supporting Variants | nssv1417891 |
| Samples | NA18853 |
| Known Genes | PDGFRL |
| Method | SNP array |
| Analysis | An integrated HMM algorithm was developed and we constructed accurate models for log R Ratio and B Allele Frequency. We developed more realistic models for state transition between different copy number states. PennCNV incorporates the population allele frequency for each SNP and the distance between adjacent SNPs. We incorporated a Bayesian approach into PennCNV to use family information for a posteriori CNV validation and CNV boundary mapping. |
| Platform | GPL6433 |
| Comments | |
| Reference | Wang_et_al_2007 |
| Pubmed ID | 17921354 |
| Accession Number(s) | nsv818612
|
| Frequency | | Sample Size | 112 | | Observed Gain | 0 | | Observed Loss | 1 | | Observed Complex | 0 | | Frequency | n/a |
|
