nsv1053389
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:24,806,226
- Publication(s):Coe et al. 2014
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: 75632 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 75230 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 22811 SVs from 43 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1053389 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 81,434 | 24,887,659 |
| nsv1053389 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 282,465 | 25,040,593 |
| nsv1053389 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 60,861 | 24,931,860 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3458021 | copy number gain | 9862168 | Oligo aCGH | Probe signal intensity | nssv3445770, nssv3455962 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3458021 | Remapped | Good | NC_000012.12:g.(?_ 81434)_(24887659_? )dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 81,434 | 24,887,659 |
| nssv3458021 | Remapped | Good | NC_000012.11:g.(?_ 282465)_(25040593_ ?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 282,465 | 25,040,593 |
| nssv3458021 | Submitted genomic | NC_000012.10:g.(?_ 60861)_(24931860_? )dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 60,861 | 24,931,860 |