nsv509246
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:36,297
- 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: 228 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 228 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 10 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv509246 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 51,902,982 | 51,939,278 |
| nsv509246 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 52,368,654 | 52,404,950 |
| nsv509246 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 52,080,675 | 52,116,971 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv617994 | insertion | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
| nssv619794 | insertion | GM10860 | Optical mapping | Optical mapping | 1,998 | |||
| nssv621095 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv617994 | Remapped | Perfect | NC_000001.11:g.(51 902982_?)_(?_51939 278)ins4611 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 51,902,982 | 51,939,278 |
| nssv619794 | Remapped | Perfect | NC_000001.11:g.(51 902982_?)_(?_51939 278)ins7095 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 51,902,982 | 51,939,278 |
| nssv621095 | Remapped | Perfect | NC_000001.11:g.(51 902982_?)_(?_51939 278)ins4295 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 51,902,982 | 51,939,278 |
| nssv617994 | Remapped | Perfect | NC_000001.10:g.(52 368654_?)_(?_52404 950)ins4611 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 52,368,654 | 52,404,950 |
| nssv619794 | Remapped | Perfect | NC_000001.10:g.(52 368654_?)_(?_52404 950)ins7095 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 52,368,654 | 52,404,950 |
| nssv621095 | Remapped | Perfect | NC_000001.10:g.(52 368654_?)_(?_52404 950)ins4295 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 52,368,654 | 52,404,950 |
| nssv617994 | Submitted genomic | NC_000001.8:g.(520 80675_?)_(?_521169 71)ins4611 | NCBI35 (hg17) | NC_000001.8 | Chr1 | 52,080,675 | 52,116,971 | ||
| nssv619794 | Submitted genomic | NC_000001.8:g.(520 80675_?)_(?_521169 71)ins7095 | NCBI35 (hg17) | NC_000001.8 | Chr1 | 52,080,675 | 52,116,971 | ||
| nssv621095 | Submitted genomic | NC_000001.8:g.(520 80675_?)_(?_521169 71)ins4295 | NCBI35 (hg17) | NC_000001.8 | Chr1 | 52,080,675 | 52,116,971 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv617994 | CHM | NCBI35: NC_000001.8:g.(52080675_?)_(?_52116971)ins4611 | insertion | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |