nsv482848
- 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:149,326
- 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: 769 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 769 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482848 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 180,091,520 | 180,240,845 |
| nsv482848 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 181,012,673 | 181,161,998 |
| nsv482848 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000004.8 | Chr4 | 181,708,563 | 181,857,888 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3009189 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3009189 | Remapped | Perfect | NC_000004.12:g.(?_ 180091520)_(180240 845_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 180,091,520 | 180,240,845 |
| nssv3009189 | Remapped | Perfect | NC_000004.11:g.(?_ 181012673)_(181161 998_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 181,012,673 | 181,161,998 |
| nssv3009189 | Submitted genomic | NC_000004.8:g.(?_1 81708563)_(1818578 88_?)del | NCBI34 (hg16) | NC_000004.8 | Chr4 | 181,708,563 | 181,857,888 |