| Internal ID | 15234644 |
| Landmark | |
| Location Information | |
| Cytoband | 14q12 |
| Allele length | | Assembly | Allele length | | hg38 | 3034 | | hg19 | 3034 | | hg18 | 3034 | | hg17 | 3034 |
|
| Variant Type | CNV loss |
| Copy Number | |
| Allele State | |
| Allele Origin | |
| Probe Count | |
| Validation Flag | |
| Merged Status | M |
| Merged Variants | |
| Supporting Variants | nssv558532 |
| Samples | KB1 |
| Known Genes | KHNYN, SDR39U1 |
| Method | Sequencing |
| Analysis | We constructed duplication maps for the KB1 genome and estimated the absolute copy number of each duplication interval larger than 20 kb in length. Using absolute estimates of copy number, we calculated an in silico log2 ratio for each the KB1 genome and compared copy number predictions with previously published copy numbers detected in NA18507 and YH genomes. |
| Platform | Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen |
| Comments | SDR39U1 |
| Reference | Schuster_et_al_2010 |
| Pubmed ID | 20164927 |
| Accession Number(s) | nsv482171
|
| Frequency | | Sample Size | 1 | | Observed Gain | 0 | | Observed Loss | 1 | | Observed Complex | 0 | | Frequency | n/a |
|
