nsv471807
- 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:1,832
- 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: 105 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 3 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv471807 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 41,404,037 | 41,405,868 |
| nsv471807 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 41,406,054 | 41,407,885 |
| nsv471807 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 41,246,982 | 41,248,813 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv646088 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv646088 | Remapped | Perfect | NC_000004.12:g.414 04037_41405868del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 41,404,037 | 41,405,868 |
| nssv646088 | Remapped | Perfect | NC_000004.11:g.414 06054_41407885del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 41,406,054 | 41,407,885 |
| nssv646088 | Submitted genomic | NC_000004.9:g.4124 6982_41248813del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 41,246,982 | 41,248,813 |
Validation Information
| Variant Call ID | Experiment ID | Method | Analysis | Result |
|---|---|---|---|---|
| nssv646088 | 2 | PCR | Manual observation | Pass |