nsv471333
- 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:110,077
- 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: 1769 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 603 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 2096 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 86 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv471333 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 22,960,463 | 23,067,431 |
| nsv471333 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 57,515 | 167,591 |
| nsv471333 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 22,805,637 | 22,912,605 |
| nsv471333 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000015.8 | Chr15 | 20,357,001 | 20,464,046 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv547996 | Remapped | Good | NT_187603.1:g.(575 15_?)_(?_167591)de l | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 57,515 | 167,591 |
| nssv547996 | Remapped | Good | NC_000015.10:g.(22 960463_?)_(?_23067 431)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,960,463 | 23,067,431 |
| nssv547996 | Remapped | Good | NC_000015.9:g.(228 05637_?)_(?_229126 05)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 22,805,637 | 22,912,605 |
| nssv547996 | Submitted genomic | NC_000015.8:g.(203 57001_?)_(?_204640 46)del | NCBI35 (hg17) | NC_000015.8 | Chr15 | 20,357,001 | 20,464,046 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv547996 | 3 | NA18507 | Oligo aCGH | Probe signal intensity | Pass |