nsv471811
- 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:2,198
- 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: 138 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 138 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 2 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv471811 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 54,352,085 | 54,353,185 | 54,354,282 |
| nsv471811 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 55,218,252 | 55,219,352 | 55,220,449 |
| nsv471811 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 55,059,180 | 55,060,280 | 55,061,377 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv646092 | copy number loss | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv646092 | Remapped | Perfect | NC_000004.12:g.(54 352085_54353185)_5 4354282del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 54,352,085 | 54,353,185 | 54,354,282 |
| nssv646092 | Remapped | Perfect | NC_000004.11:g.(55 218252_55219352)_5 5220449del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 55,218,252 | 55,219,352 | 55,220,449 |
| nssv646092 | Submitted genomic | NC_000004.9:g.(550 59180_55060280)_55 061377del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 55,059,180 | 55,060,280 | 55,061,377 |
Validation Information
| Variant Call ID | Experiment ID | Method | Analysis | Result |
|---|---|---|---|---|
| nssv646092 | 2 | PCR | Manual observation | Pass |