nsv5219412
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:321
- Publication(s):Chen et al. 2021
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 167 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 169 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5219412 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000001.11 | Chr1 | 108,817,483 (-9, +8) | 108,817,803 (-9, +8) | ||
| nsv5219412 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 109,360,105 (-9, +8) | 109,360,425 (-9, +8) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16740288 | alu deletion | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16740288 | Submitted genomic | NC_000001.11:g.(10 8817474_108817491) _(108817794_108817 811)del | GRCh38.p13 | NC_000001.11 | Chr1 | 108,817,483 (-9, +8) | 108,817,803 (-9, +8) | ||
| nssv16740288 | Remapped | Perfect | NC_000001.10:g.(10 9360096_109360113) _(109360416_109360 433)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 109,360,105 (-9, +8) | 109,360,425 (-9, +8) |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) |
|---|---|
| nssv16740288 | <0.001 |