nsv5890154
- 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:60
- 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: 265 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 265 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5890154 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 130,754,910 | 130,754,969 | ||
| nsv5890154 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 131,512,483 | 131,512,542 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17394380 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17394380 | Submitted genomic | NC_000002.12:g.130 754910_130754969de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 130,754,910 | 130,754,969 | ||
| nssv17394380 | Remapped | Perfect | NC_000002.11:g.131 512483_131512542de l | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 131,512,483 | 131,512,542 |