nsv471375
- Organism: Homo sapiens
- Study:nstd31 (Alkan et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:40,516
- Description:TUBGCP5
- Publication(s):Alkan et al. 2009
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: 1089 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 394 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 1408 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 69 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv471375 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 22,999,177 | 23,039,673 |
| nsv471375 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 96,179 | 136,694 |
| nsv471375 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 22,833,395 | 22,873,891 |
| nsv471375 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000015.8 | Chr15 | 20,384,836 | 20,425,332 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv548105 | Remapped | Good | NT_187603.1:g.(961 79_?)_(?_136694)de l | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 96,179 | 136,694 |
| nssv548105 | Remapped | Perfect | NC_000015.10:g.(22 999177_?)_(?_23039 673)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,999,177 | 23,039,673 |
| nssv548105 | Remapped | Perfect | NC_000015.9:g.(228 33395_?)_(?_228738 91)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 22,833,395 | 22,873,891 |
| nssv548105 | Submitted genomic | NC_000015.8:g.(203 84836_?)_(?_204253 32)del | NCBI35 (hg17) | NC_000015.8 | Chr15 | 20,384,836 | 20,425,332 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv548105 | 4 | NA18507 | Oligo aCGH | Probe signal intensity | Pass |