nsv1190973
- 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:546,350
- 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: 3532 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 3544 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 1616 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1190973 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 22,754,688 | 23,301,037 |
| nsv1190973 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 23,097,177 | 23,643,224 |
| nsv1190973 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 21,427,177 | 21,973,224 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7464546 | copy number gain | 22853 | Oligo aCGH | Probe signal intensity | nssv7459824, nssv7468754 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7464546 | Remapped | Good | NC_000022.11:g.(?_ 22754688)_(2330103 7_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,754,688 | 23,301,037 |
| nssv7464546 | Remapped | Perfect | NC_000022.10:g.(?_ 23097177)_(2364322 4_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 23,097,177 | 23,643,224 |
| nssv7464546 | Submitted genomic | NC_000022.9:g.(?_2 1427177)_(21973224 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 21,427,177 | 21,973,224 |