nsv482109
- 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:27,205
- Description:CYP3A4
- 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: 157 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 157 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482109 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 99,756,981 | 99,784,185 |
| nsv482109 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 99,354,604 | 99,381,808 |
| nsv482109 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 98,999,255 | 99,026,459 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv558470 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv558470 | Remapped | Perfect | NC_000007.14:g.(99 756981_?)_(?_99784 185)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 99,756,981 | 99,784,185 |
| nssv558470 | Remapped | Perfect | NC_000007.13:g.(99 354604_?)_(?_99381 808)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 99,354,604 | 99,381,808 |
| nssv558470 | Submitted genomic | NC_000007.11:g.(98 999255_?)_(?_99026 459)dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 98,999,255 | 99,026,459 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558470 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |