nsv482171
- 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:3,034
- Description:SDR39U1
- 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: 80 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 2 SVs from 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482171 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 24,439,768 | 24,442,801 |
| nsv482171 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 24,908,974 | 24,912,007 |
| nsv482171 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000014.7 | Chr14 | 23,978,814 | 23,981,847 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv558532 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv558532 | Remapped | Perfect | NC_000014.9:g.(244 39768_?)_(?_244428 01)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 24,439,768 | 24,442,801 |
| nssv558532 | Remapped | Perfect | NC_000014.8:g.(249 08974_?)_(?_249120 07)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 24,908,974 | 24,912,007 |
| nssv558532 | Submitted genomic | NC_000014.7:g.(239 78814_?)_(?_239818 47)del | NCBI35 (hg17) | NC_000014.7 | Chr14 | 23,978,814 | 23,981,847 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558532 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |