nsv428447
- 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:158,378
- 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: 586 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 586 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 154 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv428447 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 102,182,573 | 102,340,950 |
| nsv428447 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 103,103,730 | 103,262,107 |
| nsv428447 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 103,322,753 | 103,481,130 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv454572 | copy number gain | HGDP00449 | BAC aCGH | Probe signal intensity | 126 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv454572 | Remapped | Perfect | NC_000004.12:g.(?_ 102182573)_(102340 950_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 102,182,573 | 102,340,950 |
| nssv454572 | Remapped | Perfect | NC_000004.11:g.(?_ 103103730)_(103262 107_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 103,103,730 | 103,262,107 |
| nssv454572 | Submitted genomic | NC_000004.10:g.(?_ 103322753)_(103481 130_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 103,322,753 | 103,481,130 |