nsv510970
- 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:74,520
- 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: 1095 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 214 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 1095 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 17 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv510970 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 144,238,233 | 144,312,745 |
| nsv510970 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_018654715.1 | Chr7|NW_01 8654715.1 | 192,827 | 267,346 |
| nsv510970 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 143,935,326 | 144,009,838 |
| nsv510970 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 143,372,974 | 143,447,486 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv622384 | inversion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv622384 | Remapped | Good | NW_018654715.1:g.( 192827_?)_(?_26734 6)inv | GRCh38.p12 | Second Pass | NW_018654715.1 | Chr7|NW_01 8654715.1 | 192,827 | 267,346 |
| nssv622384 | Remapped | Perfect | NC_000007.14:g.(14 4238233_?)_(?_1443 12745)inv | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 144,238,233 | 144,312,745 |
| nssv622384 | Remapped | Perfect | NC_000007.13:g.(14 3935326_?)_(?_1440 09838)inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 143,935,326 | 144,009,838 |
| nssv622384 | Submitted genomic | NC_000007.11:g.(14 3372974_?)_(?_1434 47486)inv | NCBI35 (hg17) | NC_000007.11 | Chr7 | 143,372,974 | 143,447,486 |