| Internal ID | 15211987 |
| Landmark | |
| Location Information | |
| Cytoband | 17q12 |
| Allele length | | Assembly | Allele length | | hg38 | 260171 | | hg18 | 186057 | | hg17 | 186057 |
|
| Variant Type | CNV gain |
| Copy Number | |
| Allele State | |
| Allele Origin | |
| Probe Count | |
| Validation Flag | |
| Merged Status | M |
| Merged Variants | |
| Supporting Variants | nssv547863, nssv547864, nssv547862 |
| Samples | NA18507, YH, JDW |
| Known Genes | LOC440434, MRPL45, TBC1D3, TBC1D3C, TBC1D3F |
| Method | Sequencing |
| Analysis | We constructed duplication maps for each of the three genomes and estimated the absolute copy number of each duplication interval larger than 20 kb in length. We considered a given segment to be duplicated within an individual if the median estimated copy number for that individual was >2.5. |
| Platform | Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen |
| Comments | MRPL45 |
| Reference | Alkan_et_al_2009 |
| Pubmed ID | 19718026 |
| Accession Number(s) | nsv471507
|
| Frequency | | Sample Size | 3 | | Observed Gain | 3 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
|
