| Internal ID | 16062514 |
| Landmark | |
| Location Information | |
| Cytoband | 1p11.2 |
| Allele length | | Assembly | Allele length | | hg38 | 120732 | | hg19 | 120694 | | hg18 | 120694 |
|
| Variant Type | CNV duplication |
| Copy Number | |
| Allele State | |
| Allele Origin | |
| Probe Count | |
| Validation Flag | |
| Merged Status | M |
| Merged Variants | |
| Supporting Variants | nssv1420569 |
| Samples | NA10851 |
| Known Genes | NOTCH2 |
| Method | Sequencing |
| Analysis | Read-depth of sequencing coverage was calculated for each base of human reference genome assembly build 36.3 (hg18) by our own script. Influence of GC contents on the read-depth of sequencing coverage was adjusted using modified method suggested by Yoon et al. We sought the relationship between GC contents and read-depth of coverage in 100bp windows. Then the single base RD (Read depth) was adjusted by the relationship. |
| Platform | Illumina IIx |
| Comments | |
| Reference | Ju_et_al_2010 |
| Pubmed ID | 20802225 |
| Accession Number(s) | nsv820378
|
| Frequency | | Sample Size | 1 | | Observed Gain | 1 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
|
