nsv1056650
- 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:641,714
- 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: 2134 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 2134 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 528 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1056650 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 29,564,147 | 30,205,860 |
| nsv1056650 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 27,144,112 | 27,785,825 |
| nsv1056650 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 25,398,110 | 26,039,823 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3465895 | copy number loss | 9874623 | Oligo aCGH | Probe signal intensity | nssv3464621 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3465895 | Remapped | Perfect | NC_000018.10:g.(?_ 29564147)_(3020586 0_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 29,564,147 | 30,205,860 |
| nssv3465895 | Remapped | Perfect | NC_000018.9:g.(?_2 7144112)_(27785825 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 27,144,112 | 27,785,825 |
| nssv3465895 | Submitted genomic | NC_000018.8:g.(?_2 5398110)_(26039823 _?)del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 25,398,110 | 26,039,823 |