nsv5952980
- 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:982,638
- 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: 1353 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 5562 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 3539 SVs from 102 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5952980 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 28,864,857 | 29,847,494 | ||
| nsv5952980 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000009.11 | Chr9 | 66,459,367 | 68,486,942 |
| nsv5952980 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000020.10 | Chr20 | 25,864,401 | 29,615,130 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17396782 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17396782 | Submitted genomic | NC_000020.11:g.288 64857_29847494del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 28,864,857 | 29,847,494 | ||
| nssv17396782 | Remapped | Pass | NC_000020.10:g.258 64401_29615130delN C_000009.11:g.6645 9367_68486942del | GRCh37.p13 | Second Pass | NC_000009.11 | Chr9 | 66,459,367 | 68,486,942 |
| nssv17396782 | Remapped | Pass | NC_000020.10:g.258 64401_29615130delN C_000009.11:g.6645 9367_68486942del | GRCh37.p13 | Second Pass | NC_000020.10 | Chr20 | 25,864,401 | 29,615,130 |