nsv508266
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:copy number variation
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:19,426
- Publication(s):Teague 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: 538 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 538 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv508266 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 191,346,423 | 191,365,848 |
| nsv508266 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 191,064,212 | 191,083,637 |
| nsv508266 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000003.9 | Chr3 | 192,546,914 | 192,566,339 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv618732 | deletion | GM10860 | Optical mapping | Optical mapping | 1,998 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv618732 | Remapped | Perfect | NC_000003.12:g.(19 1346423_?)_(?_1913 65848)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 191,346,423 | 191,365,848 |
| nssv618732 | Remapped | Perfect | NC_000003.11:g.(19 1064212_?)_(?_1910 83637)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 191,064,212 | 191,083,637 |
| nssv618732 | Submitted genomic | NC_000003.9:g.(192 546914_?)_(?_19256 6339)del4298 | NCBI35 (hg17) | NC_000003.9 | Chr3 | 192,546,914 | 192,566,339 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv618732 | 9 | GM10860 | Oligo aCGH | Probe signal intensity | Pass |