nsv471766
- 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:3,566
- 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: 335 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 335 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 11 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv471766 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 86,055,234 | 86,058,799 |
| nsv471766 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 86,976,387 | 86,979,952 |
| nsv471766 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 87,333,566 | 87,337,131 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv646047 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv646047 | Remapped | Perfect | NC_000004.12:g.860 55234_86058799del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 86,055,234 | 86,058,799 |
| nssv646047 | Remapped | Perfect | NC_000004.11:g.869 76387_86979952del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 86,976,387 | 86,979,952 |
| nssv646047 | Submitted genomic | NC_000004.9:g.8733 3566_87337131del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 87,333,566 | 87,337,131 |
Validation Information
| Variant Call ID | Experiment ID | Method | Analysis | Result |
|---|---|---|---|---|
| nssv646047 | 2 | PCR | Manual observation | Pass |