nsv507337
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:sequence alteration
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:6,189
- 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: 136 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 130 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv507337 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 70,182,480 | 70,188,668 |
| nsv507337 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 70,892,372 | 70,898,372 |
| nsv507337 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 70,949,093 | 70,955,093 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv617710 | sequence alteration | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
| nssv622975 | sequence alteration | GM18994 | Optical mapping | Optical mapping | 1,936 | |||
| nssv621842 | sequence alteration | GM10860 | Optical mapping | Optical mapping | 1,998 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|
| nssv617710 | Remapped | Good | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 70,181,911 | 70,188,099 |
| nssv622975 | Remapped | Good | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 70,182,108 | 70,188,296 |
| nssv621842 | Remapped | Good | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 70,182,480 | 70,188,668 |
| nssv617710 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 70,891,803 | 70,897,803 |
| nssv622975 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 70,892,000 | 70,898,000 |
| nssv621842 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 70,892,372 | 70,898,372 |
| nssv617710 | Submitted genomic | NCBI35 (hg17) | NC_000006.9 | Chr6 | 70,948,524 | 70,954,524 | ||
| nssv622975 | Submitted genomic | NCBI35 (hg17) | NC_000006.9 | Chr6 | 70,948,721 | 70,954,721 | ||
| nssv621842 | Submitted genomic | NCBI35 (hg17) | NC_000006.9 | Chr6 | 70,949,093 | 70,955,093 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Sample ID | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv617710 | CHM | sequence alteration | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |