nsv471758
- Organism: Homo sapiens
- Study:nstd34 (Hinds et al. 2005)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:3,215
- Publication(s):Hinds et al. 2005
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: 488 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 488 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv471758 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 71,302,481 | 71,305,695 |
| nsv471758 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 72,214,716 | 72,217,930 |
| nsv471758 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 72,377,270 | 72,380,484 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv646039 | copy number loss | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv646039 | Remapped | Perfect | NC_000008.11:g.713 02481_71305695del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 71,302,481 | 71,305,695 |
| nssv646039 | Remapped | Perfect | NC_000008.10:g.722 14716_72217930del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 72,214,716 | 72,217,930 |
| nssv646039 | Submitted genomic | NC_000008.9:g.7237 7270_72380484del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 72,377,270 | 72,380,484 |
Validation Information
| Variant Call ID | Experiment ID | Method | Analysis | Result |
|---|---|---|---|---|
| nssv646039 | 2 | PCR | Manual observation | Pass |