nsv482076
- 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:21,318
- Description:GGT1
- 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: 344 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 344 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482076 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 24,607,688 | 24,629,005 |
| nsv482076 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 25,003,655 | 25,024,972 |
| nsv482076 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000022.8 | Chr22 | 23,328,209 | 23,349,526 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv558437 | copy number gain | KB1 | Sequencing | Read depth | 13 | 187 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv558437 | Remapped | Perfect | NC_000022.11:g.(24 607688_?)_(?_24629 005)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 24,607,688 | 24,629,005 |
| nssv558437 | Remapped | Perfect | NC_000022.10:g.(25 003655_?)_(?_25024 972)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 25,003,655 | 25,024,972 |
| nssv558437 | Submitted genomic | NC_000022.8:g.(233 28209_?)_(?_233495 26)dup | NCBI35 (hg17) | NC_000022.8 | Chr22 | 23,328,209 | 23,349,526 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558437 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |