nsv508950
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:72,995
- 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: 209 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 209 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 5 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 |
---|---|---|---|---|---|---|---|---|---|
nsv508950 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 127,441,237 | 127,514,231 |
nsv508950 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 127,160,080 | 127,233,074 |
nsv508950 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000003.9 | Chr3 | 128,642,778 | 128,715,772 |
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 |
---|---|---|---|---|---|---|---|---|
nssv618019 | insertion | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv618019 | Remapped | Perfect | NC_000003.12:g.(12 7441237_?)_(?_1275 14231)ins5877 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 127,441,237 | 127,514,231 |
nssv618019 | Remapped | Perfect | NC_000003.11:g.(12 7160080_?)_(?_1272 33074)ins5877 | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 127,160,080 | 127,233,074 |
nssv618019 | Submitted genomic | NC_000003.9:g.(128 642778_?)_(?_12871 5772)ins5877 | NCBI35 (hg17) | NC_000003.9 | Chr3 | 128,642,778 | 128,715,772 |
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 |
---|---|---|---|---|---|---|---|---|
nssv618019 | CHM | NCBI35: NC_000003.9:g.(128642778_?)_(?_128715772)ins5877 | insertion | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |