nsv482107
- 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:17,453
- Description:UPK3B
- 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: 811 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 808 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 49 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482107 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 76,510,428 | 76,527,880 |
| nsv482107 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 76,139,745 | 76,157,197 |
| nsv482107 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 75,784,396 | 75,801,848 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv558468 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv558468 | Remapped | Perfect | NC_000007.14:g.(76 510428_?)_(?_76527 880)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,510,428 | 76,527,880 |
| nssv558468 | Remapped | Perfect | NC_000007.13:g.(76 139745_?)_(?_76157 197)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,139,745 | 76,157,197 |
| nssv558468 | Submitted genomic | NC_000007.11:g.(75 784396_?)_(?_75801 848)dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 75,784,396 | 75,801,848 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558468 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |