nsv5966797
- 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:70
- 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: 171 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5966797 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 29,455,594 | 29,455,663 | ||
| nsv5966797 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NT_167213.1 | Unplaced|N T_167213.1 | 54,749 | 54,818 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17409225 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17409225 | Submitted genomic | NC_000020.11:g.294 55594_29455663del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 29,455,594 | 29,455,663 | ||
| nssv17409225 | Remapped | Perfect | NT_167213.1:g.5474 9_54818del | GRCh37.p13 | Second Pass | NT_167213.1 | Unplaced|N T_167213.1 | 54,749 | 54,818 |