nsv510718
- 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:48,846
- 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: 245 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 244 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv510718 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 57,430,074 | 57,478,919 |
| nsv510718 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 55,507,435 | 55,556,280 |
| nsv510718 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000017.9 | Chr17 | 52,862,434 | 52,911,279 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv617430 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv617430 | Remapped | Perfect | NC_000017.11:g.(57 430074_?)_(?_57478 919)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 57,430,074 | 57,478,919 |
| nssv617430 | Remapped | Perfect | NC_000017.10:g.(55 507435_?)_(?_55556 280)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 55,507,435 | 55,556,280 |
| nssv617430 | Submitted genomic | NC_000017.9:g.(528 62434_?)_(?_529112 79)del5719 | NCBI35 (hg17) | NC_000017.9 | Chr17 | 52,862,434 | 52,911,279 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv617430 | CHM | NCBI35: NC_000017.9:g.(52862434_?)_(?_52911279)del5719 | deletion | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |