nsv511003
- 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:52,905
- 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: 760 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 459 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 758 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 18 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv511003 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 49,694,564 | 49,747,451 |
| nsv511003 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 158,696 | 211,600 |
| nsv511003 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 49,716,116 | 49,769,003 |
| nsv511003 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000011.8 | Chr11 | 49,672,692 | 49,725,579 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv618612 | complex substitution | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
| nssv621562 | complex substitution | GM15510 | Optical mapping | Optical mapping | 1,740 | |||
| nssv622359 | complex substitution | GM10860 | Optical mapping | Optical mapping | 1,998 | |||
| nssv624290 | complex substitution | GM18994 | Optical mapping | Optical mapping | 1,936 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|
| nssv618612 | Remapped | Good | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 158,696 | 211,600 |
| nssv621562 | Remapped | Good | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 158,696 | 211,600 |
| nssv622359 | Remapped | Good | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 158,696 | 211,600 |
| nssv624290 | Remapped | Good | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 158,696 | 211,600 |
| nssv618612 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,694,564 | 49,747,451 |
| nssv621562 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,694,564 | 49,747,451 |
| nssv622359 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,694,564 | 49,747,451 |
| nssv624290 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,694,564 | 49,747,451 |
| nssv618612 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,716,116 | 49,769,003 |
| nssv621562 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,716,116 | 49,769,003 |
| nssv622359 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,716,116 | 49,769,003 |
| nssv624290 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,716,116 | 49,769,003 |
| nssv618612 | Submitted genomic | NCBI35 (hg17) | NC_000011.8 | Chr11 | 49,672,692 | 49,725,579 | ||
| nssv621562 | Submitted genomic | NCBI35 (hg17) | NC_000011.8 | Chr11 | 49,672,692 | 49,725,579 | ||
| nssv622359 | Submitted genomic | NCBI35 (hg17) | NC_000011.8 | Chr11 | 49,672,692 | 49,725,579 | ||
| nssv624290 | Submitted genomic | NCBI35 (hg17) | NC_000011.8 | Chr11 | 49,672,692 | 49,725,579 |
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 |
|---|---|---|---|---|---|---|---|
| nssv618612 | CHM | complex substitution | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |