nsv1189228
- 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1189228 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 132,998,342 | 133,398,723 |
| nsv1189228 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 132,868,237 | 133,268,618 |
| nsv1189228 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 132,373,447 | 132,773,828 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7469969 | copy number gain | 11369 | Oligo aCGH | Probe signal intensity | nssv7468286, nssv7468435 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7469969 | Remapped | Perfect | NC_000011.10:g.(?_ 132998342)_(133398 723_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 132,998,342 | 133,398,723 |
| nssv7469969 | Remapped | Perfect | NC_000011.9:g.(?_1 32868237)_(1332686 18_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 132,868,237 | 133,268,618 |
| nssv7469969 | Submitted genomic | NC_000011.8:g.(?_1 32373447)_(1327738 28_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 132,373,447 | 132,773,828 |