nsv511045
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:complex substitution
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:672,709
- 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: 2839 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 2839 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 68 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv511045 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 14,708,642 | 15,381,350 |
| nsv511045 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 14,802,499 | 15,475,207 |
| nsv511045 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000016.8 | Chr16 | 14,710,000 | 15,382,708 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv618625 | complex substitution | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
| nssv621635 | complex substitution | GM15510 | Optical mapping | Optical mapping | 1,740 | |||
| nssv622415 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv618625 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 14,708,642 | 15,025,400 | |
| nssv621635 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 14,708,642 | 15,025,400 | |
| nssv622415 | Remapped | Perfect | NC_000016.10:g.(14 832232_?)_(?_15381 350)inv | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 14,832,232 | 15,381,350 |
| nssv618625 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 14,802,499 | 15,119,257 | |
| nssv621635 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 14,802,499 | 15,119,257 | |
| nssv622415 | Remapped | Perfect | NC_000016.9:g.(149 26089_?)_(?_154752 07)inv | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 14,926,089 | 15,475,207 |
| nssv618625 | Submitted genomic | NCBI35 (hg17) | NC_000016.8 | Chr16 | 14,710,000 | 15,026,758 | |||
| nssv621635 | Submitted genomic | NCBI35 (hg17) | NC_000016.8 | Chr16 | 14,710,000 | 15,026,758 | |||
| nssv622415 | Submitted genomic | NC_000016.8:g.(148 33590_?)_(?_153827 08)inv | NCBI35 (hg17) | NC_000016.8 | Chr16 | 14,833,590 | 15,382,708 |
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 |
|---|---|---|---|---|---|---|---|
| nssv618625 | CHM | complex substitution | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |