nsv1190289
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:150,291
- Publication(s):Polyak et al. 2015
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: 483 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 483 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1190289 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 83,354,908 | 83,505,198 |
| nsv1190289 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 84,064,627 | 84,214,917 |
| nsv1190289 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 84,121,346 | 84,271,636 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7461348 | copy number loss | 18465 | Oligo aCGH | Probe signal intensity | nssv7460045, nssv7463732, nssv7472293 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7461348 | Remapped | Perfect | NC_000006.12:g.(?_ 83354908)_(8350519 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 83,354,908 | 83,505,198 |
| nssv7461348 | Remapped | Perfect | NC_000006.11:g.(?_ 84064627)_(8421491 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 84,064,627 | 84,214,917 |
| nssv7461348 | Submitted genomic | NC_000006.10:g.(?_ 84121346)_(8427163 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 84,121,346 | 84,271,636 |