nsv1192312
- 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:400,382
- 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: 1239 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1239 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 415 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1192312 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 132,998,343 | 133,398,724 |
| nsv1192312 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 132,868,238 | 133,268,619 |
| nsv1192312 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 132,373,448 | 132,773,829 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7470479 | copy number gain | 11091 | Oligo aCGH | Probe signal intensity | nssv7470797, nssv7468504, nssv7461085 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7470479 | Remapped | Perfect | NC_000011.10:g.(?_ 132998343)_(133398 724_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 132,998,343 | 133,398,724 |
| nssv7470479 | Remapped | Perfect | NC_000011.9:g.(?_1 32868238)_(1332686 19_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 132,868,238 | 133,268,619 |
| nssv7470479 | Submitted genomic | NC_000011.8:g.(?_1 32373448)_(1327738 29_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 132,373,448 | 132,773,829 |