nsv4708319
- Organism: Homo sapiens
- Study:nstd195 (Mwapagha et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2
- Publication(s):Mwapagha 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: 159 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 161 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4708319 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 184,750,528 | 184,750,529 |
| nsv4708319 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 184,719,662 | 184,719,663 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16244569 | deletion | B381 | Sequencing | Paired-end mapping | 1 | 5,743 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16244569 | Remapped | Perfect | NC_000001.11:g.184 750528_184750529de l | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 184,750,528 | 184,750,529 |
| nssv16244569 | Submitted genomic | NC_000001.10:g.184 719662_184719663de l | GRCh37 (hg19) | NC_000001.10 | Chr1 | 184,719,662 | 184,719,663 |