nsv482072
- 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:23,848
- Description:LOC51233
- 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: 564 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 564 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482072 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 23,608,453 | 23,632,300 |
| nsv482072 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 23,950,640 | 23,974,487 |
| nsv482072 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000022.8 | Chr22 | 22,275,194 | 22,299,041 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv558433 | copy number gain | KB1 | Sequencing | Read depth | 3 | 187 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv558433 | Remapped | Perfect | NC_000022.11:g.(23 608453_?)_(?_23632 300)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,608,453 | 23,632,300 |
| nssv558433 | Remapped | Perfect | NC_000022.10:g.(23 950640_?)_(?_23974 487)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 23,950,640 | 23,974,487 |
| nssv558433 | Submitted genomic | NC_000022.8:g.(222 75194_?)_(?_222990 41)dup | NCBI35 (hg17) | NC_000022.8 | Chr22 | 22,275,194 | 22,299,041 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558433 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |