| Internal ID | 22427527 |
| Landmark | |
| Location Information | |
| Cytoband | 2q13 |
| Allele length | | Assembly | Allele length | | hg38 | 357 | | hg19 | 357 |
|
| Variant Type | CNV mobile element insertion |
| Copy Number | |
| Allele State | |
| Allele Origin | |
| Probe Count | |
| Validation Flag | |
| Merged Status | M |
| Merged Variants | |
| Supporting Variants | nssv14420275 |
| Samples | HG00514 |
| Known Genes | NPHP1 |
| Method | Merging |
| Analysis | PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software |
| Platform | See merged experiments |
| Comments | Insertion of a mobile element relative to the reference |
| Reference | Chaisson_et_al_2019 |
| Pubmed ID | 30992455 |
| Accession Number(s) | nsv3558724
|
| Frequency | | Sample Size | 9 | | Observed Gain | 1 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
|
