nsv508912
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:67,984
- 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: 232 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 232 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 9 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 |
---|---|---|---|---|---|---|---|---|---|
nsv508912 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 38,583,965 | 38,651,948 |
nsv508912 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 38,625,456 | 38,693,439 |
nsv508912 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000003.9 | Chr3 | 38,600,460 | 38,668,443 |
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 |
---|---|---|---|---|---|---|---|---|
nssv618013 | insertion | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
nssv621197 | insertion | GM15510 | Optical mapping | Optical mapping | 1,740 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv618013 | Remapped | Perfect | NC_000003.12:g.(38 583965_?)_(?_38651 948)ins6125 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 38,583,965 | 38,651,948 |
nssv621197 | Remapped | Perfect | NC_000003.12:g.(38 583965_?)_(?_38651 948)ins3152 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 38,583,965 | 38,651,948 |
nssv618013 | Remapped | Perfect | NC_000003.11:g.(38 625456_?)_(?_38693 439)ins6125 | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 38,625,456 | 38,693,439 |
nssv621197 | Remapped | Perfect | NC_000003.11:g.(38 625456_?)_(?_38693 439)ins3152 | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 38,625,456 | 38,693,439 |
nssv618013 | Submitted genomic | NC_000003.9:g.(386 00460_?)_(?_386684 43)ins6125 | NCBI35 (hg17) | NC_000003.9 | Chr3 | 38,600,460 | 38,668,443 | ||
nssv621197 | Submitted genomic | NC_000003.9:g.(386 00460_?)_(?_386684 43)ins3152 | NCBI35 (hg17) | NC_000003.9 | Chr3 | 38,600,460 | 38,668,443 |
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 |
---|---|---|---|---|---|---|---|---|
nssv618013 | CHM | NCBI35: NC_000003.9:g.(38600460_?)_(?_38668443)ins6125 | insertion | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |