nsv5912567
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:73
- Publication(s):Almarri et al. 2020
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: 216 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5912567 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 124,506,650 | 124,506,722 | ||
| nsv5912567 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 126,195,219 | 126,195,291 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17353025 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17353025 | Submitted genomic | NC_000010.11:g.124 506650_124506722de l | GRCh38 (hg38) | NC_000010.11 | Chr10 | 124,506,650 | 124,506,722 | ||
| nssv17353025 | Remapped | Perfect | NC_000010.10:g.126 195219_126195291de l | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 126,195,219 | 126,195,291 |