nsv510884
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:complex substitution
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,030,448
- 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: 2342 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 2355 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 96 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv510884 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 109,546,430 | 110,576,877 | - |
| nsv510884 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 110,304,007 | 111,334,482 | - |
| nsv510884 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 109,661,382 | - | 110,807,971 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv624375 | complex substitution | GM18994 | Optical mapping | Optical mapping | 1,936 | |||
| nssv618631 | complex substitution | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv624375 | Remapped | Pass | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 109,546,430 | 110,576,877 | - |
| nssv618631 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 109,918,699 | - | 109,983,644 |
| nssv624375 | Remapped | Pass | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 110,304,007 | 111,334,482 | - |
| nssv618631 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 110,676,276 | - | 110,741,221 |
| nssv624375 | Submitted genomic | NCBI35 (hg17) | NC_000002.9 | Chr2 | 109,661,382 | - | 110,807,971 | ||
| nssv618631 | Submitted genomic | NCBI35 (hg17) | NC_000002.9 | Chr2 | 110,033,651 | - | 110,098,596 |
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 |
|---|---|---|---|---|---|---|---|
| nssv618631 | CHM | complex substitution | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |