nsv5294491
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:146
- 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: 133 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 133 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5294491 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000001.11 | Chr1 | 41,382,476 (-9, +8) | 41,382,621 (-9, +8) | ||
| nsv5294491 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 41,848,148 (-9, +8) | 41,848,293 (-9, +8) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16751279 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16751279 | Submitted genomic | NC_000001.11:g.(41 382467_41382484)_( 41382612_41382629) del | GRCh38.p13 | NC_000001.11 | Chr1 | 41,382,476 (-9, +8) | 41,382,621 (-9, +8) | ||
| nssv16751279 | Remapped | Perfect | NC_000001.10:g.(41 848139_41848156)_( 41848284_41848301) del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 41,848,148 (-9, +8) | 41,848,293 (-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) |
|---|---|
| nssv16751279 | <0.001 |