| Internal ID | 21705611 |
| Landmark | |
| Location Information | |
| Cytoband | 2q31.1 |
| Allele length | | Assembly | Allele length | | hg38 | 281 | | hg19 | 281 |
|
| Variant Type | CNV alu insertion |
| Copy Number | |
| Allele State | |
| Allele Origin | |
| Probe Count | |
| Validation Flag | |
| Merged Status | M |
| Merged Variants | |
| Supporting Variants | nssv17232480, nssv17209188 |
| Samples | |
| Known Genes | BBS5 |
| Method | Sequencing |
| Analysis | Mobile Element Locator Tool (MELT) |
| Platform | |
| Comments | Insertion of a Alu mobile element relative to the reference |
| Reference | Chuang_et_al_2021 |
| Pubmed ID | 34772701 |
| Accession Number(s) | nsv5679290
|
| Frequency | | Sample Size | 3202 | | Observed Gain | 2 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
|
