nsv482163
- Organism: Homo sapiens
- Study:nstd39 (Schuster et al. 2010)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:3,555
- Description:PATE1
- Publication(s):Schuster et al. 2010
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: 226 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 226 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv482163 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 125,746,293 | 125,749,847 |
| nsv482163 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 125,616,188 | 125,619,742 |
| nsv482163 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000011.8 | Chr11 | 125,121,398 | 125,124,952 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv558524 | copy number loss | KB1 | Sequencing | Read depth | 1 | 187 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv558524 | Remapped | Perfect | NC_000011.10:g.(12 5746293_?)_(?_1257 49847)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 125,746,293 | 125,749,847 |
| nssv558524 | Remapped | Perfect | NC_000011.9:g.(125 616188_?)_(?_12561 9742)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 125,616,188 | 125,619,742 |
| nssv558524 | Submitted genomic | NC_000011.8:g.(125 121398_?)_(?_12512 4952)del | NCBI35 (hg17) | NC_000011.8 | Chr11 | 125,121,398 | 125,124,952 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558524 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |