nsv509096
- 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:31,538
- 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: 152 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 152 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv509096 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 153,926,225 | 153,957,762 |
| nsv509096 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 153,305,785 | 153,337,322 |
| nsv509096 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 153,285,978 | 153,317,515 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv618047 | insertion | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
| nssv620838 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv618047 | Remapped | Perfect | NC_000005.10:g.(15 3926225_?)_(?_1539 57762)ins4138 | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 153,926,225 | 153,957,762 |
| nssv620838 | Remapped | Perfect | NC_000005.10:g.(15 3926225_?)_(?_1539 57762)ins3578 | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 153,926,225 | 153,957,762 |
| nssv618047 | Remapped | Perfect | NC_000005.9:g.(153 305785_?)_(?_15333 7322)ins4138 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 153,305,785 | 153,337,322 |
| nssv620838 | Remapped | Perfect | NC_000005.9:g.(153 305785_?)_(?_15333 7322)ins3578 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 153,305,785 | 153,337,322 |
| nssv618047 | Submitted genomic | NC_000005.8:g.(153 285978_?)_(?_15331 7515)ins4138 | NCBI35 (hg17) | NC_000005.8 | Chr5 | 153,285,978 | 153,317,515 | ||
| nssv620838 | Submitted genomic | NC_000005.8:g.(153 285978_?)_(?_15331 7515)ins3578 | NCBI35 (hg17) | NC_000005.8 | Chr5 | 153,285,978 | 153,317,515 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv618047 | CHM | NCBI35: NC_000005.8:g.(153285978_?)_(?_153317515)ins4138 | insertion | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |