nsv508243
- 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:38,628
- 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: 226 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 226 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv508243 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 130,610,296 | 130,648,923 |
| nsv508243 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 130,329,140 | 130,367,767 |
| nsv508243 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000003.9 | Chr3 | 131,811,838 | 131,850,465 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv617480 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv617480 | Remapped | Perfect | NC_000003.12:g.(13 0610296_?)_(?_1306 48923)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 130,610,296 | 130,648,923 |
| nssv617480 | Remapped | Perfect | NC_000003.11:g.(13 0329140_?)_(?_1303 67767)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 130,329,140 | 130,367,767 |
| nssv617480 | Submitted genomic | NC_000003.9:g.(131 811838_?)_(?_13185 0465)del5616 | NCBI35 (hg17) | NC_000003.9 | Chr3 | 131,811,838 | 131,850,465 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv617480 | CHM | NCBI35: NC_000003.9:g.(131811838_?)_(?_131850465)del5616 | deletion | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |