nsv508230
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:copy number variation
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:35,550
- 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: 447 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 447 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 6 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv508230 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 99,215,143 | 99,250,692 |
| nsv508230 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 98,933,987 | 98,969,536 |
| nsv508230 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000003.9 | Chr3 | 100,416,677 | 100,452,226 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv617479 | deletion | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv617479 | Remapped | Perfect | NC_000003.12:g.(99 215143_?)_(?_99250 692)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 99,215,143 | 99,250,692 |
| nssv617479 | Remapped | Perfect | NC_000003.11:g.(98 933987_?)_(?_98969 536)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 98,933,987 | 98,969,536 |
| nssv617479 | Submitted genomic | NC_000003.9:g.(100 416677_?)_(?_10045 2226)del6560 | NCBI35 (hg17) | NC_000003.9 | Chr3 | 100,416,677 | 100,452,226 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|---|
| nssv617479 | CHM | NCBI35: NC_000003.9:g.(100416677_?)_(?_100452226)del6560 | deletion | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |