nsv510567
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:sequence alteration
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- 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: 448 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 446 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 26 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv510567 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 150,775,167 | 150,781,167 |
| nsv510567 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 149,943,640 | 149,949,640 |
| nsv510567 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 6,299,565 | 6,305,565 |
| nsv510567 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000023.8 | ChrX | 149,614,208 | 149,620,208 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv618490 | sequence alteration | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
| nssv621378 | sequence alteration | GM15510 | Optical mapping | Optical mapping | 1,740 | |||
| nssv622212 | sequence alteration | GM10860 | Optical mapping | Optical mapping | 1,998 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|
| nssv618490 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 150,775,167 | 150,781,167 |
| nssv621378 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 150,775,167 | 150,781,167 |
| nssv622212 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 150,775,167 | 150,781,167 |
| nssv618490 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 6,299,565 | 6,305,565 |
| nssv621378 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 6,299,565 | 6,305,565 |
| nssv622212 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 6,299,565 | 6,305,565 |
| nssv618490 | Remapped | Perfect | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 149,943,640 | 149,949,640 |
| nssv621378 | Remapped | Perfect | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 149,943,640 | 149,949,640 |
| nssv622212 | Remapped | Perfect | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 149,943,640 | 149,949,640 |
| nssv618490 | Submitted genomic | NCBI35 (hg17) | NC_000023.8 | ChrX | 149,614,208 | 149,620,208 | ||
| nssv621378 | Submitted genomic | NCBI35 (hg17) | NC_000023.8 | ChrX | 149,614,208 | 149,620,208 | ||
| nssv622212 | Submitted genomic | NCBI35 (hg17) | NC_000023.8 | ChrX | 149,614,208 | 149,620,208 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv622212 | 8 | GM10860 | Oligo aCGH | Probe signal intensity | Pass |
| nssv621378 | 8 | GM15510 | Oligo aCGH | Probe signal intensity | Pass |
Clinical Assertions
| Variant Call ID | Sample ID | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv618490 | CHM | sequence alteration | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |