nsv5200278
- 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:7,802
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: 187 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 187 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5200278 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 43,101,477 | 43,109,278 |
| nsv5200278 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000017.10 | Chr17 | 41,253,494 | 41,261,295 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv16736566 | duplication | 6 | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16736566 | Remapped | Perfect | NC_000017.11:g.431 01477_43109278dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 43,101,477 | 43,109,278 |
| nssv16736566 | Submitted genomic | NC_000017.10:g.412 53494_41261295dup | GRCh37.p13 | NC_000017.10 | Chr17 | 41,253,494 | 41,261,295 |