nsv511043
- 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:26,932
- 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: 493 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 148 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 297 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 493 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv511043 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 29,550,703 | 29,569,134 |
| nsv511043 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 1,826,390 | 1,853,321 |
| nsv511043 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1,713,906 | 1,740,837 |
| nsv511043 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 29,842,907 | 29,861,338 |
| nsv511043 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000015.8 | Chr15 | 27,630,199 | 27,648,630 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv618676 | complex substitution | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
| nssv621633 | complex substitution | GM15510 | Optical mapping | Optical mapping | 1,740 | |||
| nssv622412 | complex substitution | GM10860 | Optical mapping | Optical mapping | 1,998 | |||
| nssv624348 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv618676 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 1,826,390 | 1,853,321 |
| nssv621633 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 1,826,390 | 1,853,321 |
| nssv622412 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 1,826,390 | 1,853,321 |
| nssv624348 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 1,826,390 | 1,853,321 |
| nssv618676 | Remapped | Pass | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1,713,906 | 1,740,837 |
| nssv621633 | Remapped | Pass | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1,713,906 | 1,740,837 |
| nssv622412 | Remapped | Pass | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1,713,906 | 1,740,837 |
| nssv624348 | Remapped | Pass | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1,713,906 | 1,740,837 |
| nssv618676 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 29,550,703 | 29,569,134 |
| nssv621633 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 29,550,703 | 29,569,134 |
| nssv622412 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 29,550,703 | 29,569,134 |
| nssv624348 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 29,550,703 | 29,569,134 |
| nssv618676 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 29,842,907 | 29,861,338 |
| nssv621633 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 29,842,907 | 29,861,338 |
| nssv622412 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 29,842,907 | 29,861,338 |
| nssv624348 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 29,842,907 | 29,861,338 |
| nssv618676 | Submitted genomic | NCBI35 (hg17) | NC_000015.8 | Chr15 | 27,630,199 | 27,648,630 | ||
| nssv621633 | Submitted genomic | NCBI35 (hg17) | NC_000015.8 | Chr15 | 27,630,199 | 27,648,630 | ||
| nssv622412 | Submitted genomic | NCBI35 (hg17) | NC_000015.8 | Chr15 | 27,630,199 | 27,648,630 | ||
| nssv624348 | Submitted genomic | NCBI35 (hg17) | NC_000015.8 | Chr15 | 27,630,199 | 27,648,630 |
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 |
|---|---|---|---|---|---|---|---|
| nssv618676 | CHM | complex substitution | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |