nsv509159
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:74,691
- 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: 357 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 357 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv509159 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 160,177,859 | 160,252,549 |
| nsv509159 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 160,598,891 | 160,673,581 |
| nsv509159 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 160,569,302 | 160,643,992 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv618060 | insertion | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
| nssv620864 | insertion | GM15510 | Optical mapping | Optical mapping | 1,740 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv618060 | Remapped | Perfect | NC_000006.12:g.(16 0177859_?)_(?_1602 52549)ins6839 | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 160,177,859 | 160,252,549 |
| nssv620864 | Remapped | Perfect | NC_000006.12:g.(16 0177859_?)_(?_1602 52549)ins3655 | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 160,177,859 | 160,252,549 |
| nssv618060 | Remapped | Perfect | NC_000006.11:g.(16 0598891_?)_(?_1606 73581)ins6839 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 160,598,891 | 160,673,581 |
| nssv620864 | Remapped | Perfect | NC_000006.11:g.(16 0598891_?)_(?_1606 73581)ins3655 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 160,598,891 | 160,673,581 |
| nssv618060 | Submitted genomic | NC_000006.9:g.(160 569302_?)_(?_16064 3992)ins6839 | NCBI35 (hg17) | NC_000006.9 | Chr6 | 160,569,302 | 160,643,992 | ||
| nssv620864 | Submitted genomic | NC_000006.9:g.(160 569302_?)_(?_16064 3992)ins3655 | NCBI35 (hg17) | NC_000006.9 | Chr6 | 160,569,302 | 160,643,992 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv618060 | CHM | NCBI35: NC_000006.9:g.(160569302_?)_(?_160643992)ins6839 | insertion | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |