nsv510984
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:inversion
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:258,442
- 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: 1206 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1306 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 67 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv510984 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | - | 148,234,206 | 148,492,647 | - |
| nsv510984 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 147,692,626 | - | - | 147,989,743 |
| nsv510984 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 144,807,538 | - | - | 145,104,655 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv624363 | inversion | GM18994 | Optical mapping | Optical mapping | 1,936 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv624363 | Remapped | Pass | NC_000001.11:g.(?_ 148234206)_(148492 647_?)inv | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | - | 148,234,206 | 148,492,647 | - |
| nssv624363 | Remapped | Perfect | NC_000001.10:g.(14 7692626_?)_(?_1479 89743)inv | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 147,692,626 | - | - | 147,989,743 |
| nssv624363 | Submitted genomic | NC_000001.8:g.(144 807538_?)_(?_14510 4655)inv | NCBI35 (hg17) | NC_000001.8 | Chr1 | 144,807,538 | - | - | 145,104,655 |