nsv5301387
- 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:117
- 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: 150 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 150 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5301387 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000005.10 | Chr5 | 179,693,350 | 179,693,466 | ||
| nsv5301387 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 179,120,351 | 179,120,467 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16774453 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16774453 | Submitted genomic | NC_000005.10:g.179 693350_179693466de l | GRCh38.p13 | NC_000005.10 | Chr5 | 179,693,350 | 179,693,466 | ||
| nssv16774453 | Remapped | Perfect | NC_000005.9:g.1791 20351_179120467del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 179,120,351 | 179,120,467 |
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) |
|---|---|
| nssv16774453 | 0.385 |