nsv508595
- 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:61,835
- 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: 236 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 236 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 11 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv508595 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 76,780,782 | 76,842,616 |
| nsv508595 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 78,540,540 | 78,602,374 |
| nsv508595 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000010.8 | Chr10 | 78,210,546 | 78,272,380 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv617380 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv617380 | Remapped | Perfect | NC_000010.11:g.(76 780782_?)_(?_76842 616)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 76,780,782 | 76,842,616 |
| nssv617380 | Remapped | Perfect | NC_000010.10:g.(78 540540_?)_(?_78602 374)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 78,540,540 | 78,602,374 |
| nssv617380 | Submitted genomic | NC_000010.8:g.(782 10546_?)_(?_782723 80)del6286 | NCBI35 (hg17) | NC_000010.8 | Chr10 | 78,210,546 | 78,272,380 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv617380 | CHM | NCBI35: NC_000010.8:g.(78210546_?)_(?_78272380)del6286 | deletion | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |