nsv5216716
- 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:500
- 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: 89 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 171 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5216716 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000001.11 | Chr1 | 149,809,601 | 149,810,100 | ||
| nsv5216716 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 149,781,156 | 149,781,655 |
| nsv5216716 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 6,625,014 | 6,625,513 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16817231 | copy number variation | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv16817231 | Submitted genomic | GRCh38.p13 | NC_000001.11 | Chr1 | 149,809,601 | 149,810,100 | ||
| nssv16817231 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 6,625,014 | 6,625,513 |
| nssv16817231 | Remapped | Perfect | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 149,781,156 | 149,781,655 |