| Internal ID | 21742573 |
| Landmark | |
| Location Information | |
| Cytoband | 2p13.1 |
| Allele length | | Assembly | Allele length | | hg38 | 5262 | | hg19 | 5262 |
|
| Variant Type | CNV line1 insertion |
| Copy Number | |
| Allele State | |
| Allele Origin | |
| Probe Count | |
| Validation Flag | |
| Merged Status | M |
| Merged Variants | |
| Supporting Variants | nssv17235036 |
| Samples | |
| Known Genes | ALMS1 |
| Method | Sequencing |
| Analysis | Mobile Element Locator Tool (MELT) |
| Platform | |
| Comments | Insertion of a L1 mobile element relative to the reference |
| Reference | Chuang_et_al_2021 |
| Pubmed ID | 34772701 |
| Accession Number(s) | nsv5716252
|
| Frequency | | Sample Size | 3202 | | Observed Gain | 1 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
|
