nsv510582
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:complex substitution
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:250,380
- 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: 589 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 380 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 43 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv510582 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 70,927,276 | 71,177,655 |
| nsv510582 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_004070871.1 | Chr11|NW_0 04070871.1 | 471,489 | 671,868 |
| nsv510582 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000011.8 | Chr11 | 70,451,029 | 70,566,349 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|---|
| nssv618669 | complex substitution | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
| nssv621580 | complex substitution | GM15510 | Optical mapping | Optical mapping | 1,740 | |||
| nssv624299 | complex substitution | GM18994 | Optical mapping | Optical mapping | 1,936 | |||
| nssv622366 | complex substitution | GM10860 | Optical mapping | Optical mapping | 1,998 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv622366 | Remapped | Pass | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 70,927,276 | - | 71,177,655 |
| nssv621580 | Remapped | Pass | GRCh37.p13 | First Pass | NW_004070871.1 | Chr11|NW_0 04070871.1 | 471,489 | 493,329 | - |
| nssv618669 | Remapped | Pass | GRCh37.p13 | First Pass | NW_004070871.1 | Chr11|NW_0 04070871.1 | 471,489 | - | 593,879 |
| nssv624299 | Remapped | Pass | GRCh37.p13 | First Pass | NW_004070871.1 | Chr11|NW_0 04070871.1 | 471,489 | - | 593,879 |
| nssv622366 | Remapped | Pass | GRCh37.p13 | First Pass | NW_004070871.1 | Chr11|NW_0 04070871.1 | 471,489 | - | 671,868 |
| nssv621580 | Submitted genomic | NCBI35 (hg17) | NC_000011.8 | Chr11 | 70,451,029 | - | 70,479,675 | ||
| nssv618669 | Submitted genomic | NCBI35 (hg17) | NC_000011.8 | Chr11 | 70,451,029 | - | 70,488,360 | ||
| nssv624299 | Submitted genomic | NCBI35 (hg17) | NC_000011.8 | Chr11 | 70,451,029 | - | 70,488,360 | ||
| nssv622366 | Submitted genomic | NCBI35 (hg17) | NC_000011.8 | Chr11 | 70,451,029 | - | 70,566,349 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Sample ID | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv618669 | CHM | complex substitution | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |