| Internal ID | 21685123 |
| Landmark | |
| Location Information | |
| Cytoband | 14q24.3 |
| Allele length | | Assembly | Allele length | | hg38 | 1294 | | hg19 | 1294 |
|
| Variant Type | CNV sva insertion |
| Copy Number | |
| Allele State | |
| Allele Origin | |
| Probe Count | |
| Validation Flag | |
| Merged Status | S |
| Merged Variants | nsv5728412 |
| Supporting Variants | |
| Samples | |
| Known Genes | SPTLC2 |
| Method | Sequencing |
| Analysis | Mobile Element Locator Tool (MELT) |
| Platform | |
| Comments | Insertion of a SVA mobile element relative to the reference |
| Reference | Chuang_et_al_2021 |
| Pubmed ID | 34772701 |
| Accession Number(s) | nssv17237614
|
| Frequency | | Sample Size | 3202 | | Observed Gain | 1 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
|
