nsv1192050
- 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:283,001
- 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: 1738 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 1739 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 577 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1192050 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 23,610,680 | 23,893,680 |
| nsv1192050 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 23,952,867 | 24,235,867 |
| nsv1192050 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 22,282,867 | 22,565,867 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7472853 | copy number gain | 23147 | Oligo aCGH | Probe signal intensity | nssv7459157, nssv7463618 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7472853 | Remapped | Perfect | NC_000022.11:g.(?_ 23610680)_(2389368 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,610,680 | 23,893,680 |
| nssv7472853 | Remapped | Perfect | NC_000022.10:g.(?_ 23952867)_(2423586 7_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 23,952,867 | 24,235,867 |
| nssv7472853 | Submitted genomic | NC_000022.9:g.(?_2 2282867)_(22565867 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 22,282,867 | 22,565,867 |