nsv482200
- 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:6,230
- Description:FLJ25006
- 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: 104 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482200 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 28,607,964 | 28,614,193 |
| nsv482200 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 26,934,982 | 26,941,211 |
| nsv482200 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000017.9 | Chr17 | 23,959,109 | 23,965,338 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv558561 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv558561 | Remapped | Perfect | NC_000017.11:g.(28 607964_?)_(?_28614 193)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 28,607,964 | 28,614,193 |
| nssv558561 | Remapped | Perfect | NC_000017.10:g.(26 934982_?)_(?_26941 211)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 26,934,982 | 26,941,211 |
| nssv558561 | Submitted genomic | NC_000017.9:g.(239 59109_?)_(?_239653 38)del | NCBI35 (hg17) | NC_000017.9 | Chr17 | 23,959,109 | 23,965,338 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558561 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |