nsv5205966
- 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:289
- 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: 103 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5205966 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000010.11 | Chr10 | 97,398,065 (-6, +29) | 97,398,353 (-30, +7) | ||
| nsv5205966 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 99,157,822 (-6, +29) | 99,158,110 (-30, +7) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16755351 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16755351 | Submitted genomic | NC_000010.11:g.(97 398059_97398094)_( 97398323_97398360) del | GRCh38.p13 | NC_000010.11 | Chr10 | 97,398,065 (-6, +29) | 97,398,353 (-30, +7) | ||
| nssv16755351 | Remapped | Perfect | NC_000010.10:g.(99 157816_99157851)_( 99158080_99158117) del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 99,157,822 (-6, +29) | 99,158,110 (-30, +7) |
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) |
|---|---|
| nssv16755351 | 0.414 |