nsv482746
- Organism: Homo sapiens
- Study:nstd40 (Sharp et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:159,171
- Publication(s):Sharp et al. 2006
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: 440 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 440 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv482746 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 196,290,716 | 196,449,886 |
| nsv482746 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 196,259,846 | 196,419,016 |
| nsv482746 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000001.7 | Chr1 | 193,548,105 | 193,707,275 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3009799 | copy number loss | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3009799 | Remapped | Perfect | NC_000001.11:g.(?_ 196290716)_(196449 886_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 196,290,716 | 196,449,886 |
| nssv3009799 | Remapped | Perfect | NC_000001.10:g.(?_ 196259846)_(196419 016_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 196,259,846 | 196,419,016 |
| nssv3009799 | Submitted genomic | NC_000001.7:g.(?_1 93548105)_(1937072 75_?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 193,548,105 | 193,707,275 |