nsv507441
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:sequence alteration
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:6,007
- 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: 369 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 157 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 369 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 11 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv507441 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 9,114,576 | 9,120,576 |
| nsv507441 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,231,075 | 4,237,081 |
| nsv507441 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 8,972,086 | 8,978,086 |
| nsv507441 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 9,009,496 | 9,015,496 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv621903 | sequence alteration | GM10860 | Optical mapping | Optical mapping | 1,998 | |||
| nssv617760 | sequence alteration | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|
| nssv621903 | Remapped | Good | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,231,075 | 4,237,081 |
| nssv617760 | Remapped | Good | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,231,495 | 4,237,501 |
| nssv617760 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 9,114,156 | 9,120,156 |
| nssv621903 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 9,114,576 | 9,120,576 |
| nssv617760 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 8,971,666 | 8,977,666 |
| nssv621903 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 8,972,086 | 8,978,086 |
| nssv617760 | Submitted genomic | NCBI35 (hg17) | NC_000008.9 | Chr8 | 9,009,076 | 9,015,076 | ||
| nssv621903 | Submitted genomic | NCBI35 (hg17) | NC_000008.9 | Chr8 | 9,009,496 | 9,015,496 |
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 |
|---|---|---|---|---|---|---|---|
| nssv617760 | CHM | sequence alteration | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |