nsv428415
- Organism: Homo sapiens
- Study:nstd8 (Perry et al. 2008b)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:178,977
- Publication(s):Perry et al. 2008
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: 707 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 707 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 210 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv428415 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 22,036,401 | 22,215,377 |
| nsv428415 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 22,077,893 | 22,256,869 |
| nsv428415 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 22,052,897 | 22,231,873 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv454231 | copy number loss | HGDP00476 | BAC aCGH | Probe signal intensity | 69 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv454231 | Remapped | Perfect | NC_000003.12:g.(?_ 22036401)_(2221537 7_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 22,036,401 | 22,215,377 |
| nssv454231 | Remapped | Perfect | NC_000003.11:g.(?_ 22077893)_(2225686 9_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 22,077,893 | 22,256,869 |
| nssv454231 | Submitted genomic | NC_000003.10:g.(?_ 22052897)_(2223187 3_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 22,052,897 | 22,231,873 |