nsv428183
- 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:164,623
- 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: 1144 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1144 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 277 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv428183 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 111,160,855 | 111,325,477 |
| nsv428183 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 110,800,911 | 110,965,533 |
| nsv428183 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 110,588,147 | 110,752,769 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv451212 | copy number loss | HGDP00462 | BAC aCGH | Probe signal intensity | 83 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv451212 | Remapped | Perfect | NC_000007.14:g.(?_ 111160855)_(111325 477_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,160,855 | 111,325,477 |
| nssv451212 | Remapped | Perfect | NC_000007.13:g.(?_ 110800911)_(110965 533_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 110,800,911 | 110,965,533 |
| nssv451212 | Submitted genomic | NC_000007.12:g.(?_ 110588147)_(110752 769_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,588,147 | 110,752,769 |