nsv5200268
- Organism: Homo sapiens
- Study:nstd205 (Kwong et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:37,691
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: 498 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 496 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5200268 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 43,032,347 | 43,070,037 |
| nsv5200268 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000017.10 | Chr17 | 41,184,364 | 41,222,054 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv16736568 | deletion | 8 | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16736568 | Remapped | Perfect | NC_000017.11:g.430 32347_43070037del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 43,032,347 | 43,070,037 |
| nssv16736568 | Submitted genomic | NC_000017.10:g.411 84364_41222054del | GRCh37.p13 | NC_000017.10 | Chr17 | 41,184,364 | 41,222,054 |