nsv5210908
- 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:278
- 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: 60 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 60 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5210908 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000011.10 | Chr11 | 59,504,542 (-7, +7) | 59,504,819 (-8, +7) | ||
| nsv5210908 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 59,272,015 (-7, +7) | 59,272,292 (-8, +7) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16745140 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16745140 | Submitted genomic | NC_000011.10:g.(59 504535_59504549)_( 59504811_59504826) del | GRCh38.p13 | NC_000011.10 | Chr11 | 59,504,542 (-7, +7) | 59,504,819 (-8, +7) | ||
| nssv16745140 | Remapped | Perfect | NC_000011.9:g.(592 72008_59272022)_(5 9272284_59272299)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 59,272,015 (-7, +7) | 59,272,292 (-8, +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) |
|---|---|
| nssv16745140 | 0.003 |