nsv508294
- 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:37,838
- 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: 254 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 254 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv508294 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 84,114,826 | 84,152,663 |
| nsv508294 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 85,035,979 | 85,073,816 |
| nsv508294 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 85,393,158 | 85,430,995 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv617492 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv617492 | Remapped | Perfect | NC_000004.12:g.(84 114826_?)_(?_84152 663)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 84,114,826 | 84,152,663 |
| nssv617492 | Remapped | Perfect | NC_000004.11:g.(85 035979_?)_(?_85073 816)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 85,035,979 | 85,073,816 |
| nssv617492 | Submitted genomic | NC_000004.9:g.(853 93158_?)_(?_854309 95)del3211 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 85,393,158 | 85,430,995 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv617492 | CHM | NCBI35: NC_000004.9:g.(85393158_?)_(?_85430995)del3211 | deletion | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |