nsv509116
- 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:33,522
- 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: 172 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 172 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 2 SVs from 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv509116 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 12,104,767 | 12,138,288 |
| nsv509116 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 12,105,000 | 12,138,521 |
| nsv509116 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 12,212,986 | 12,246,507 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv618049 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv618049 | Remapped | Perfect | NC_000006.12:g.(12 104767_?)_(?_12138 288)ins3263 | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 12,104,767 | 12,138,288 |
| nssv618049 | Remapped | Perfect | NC_000006.11:g.(12 105000_?)_(?_12138 521)ins3263 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 12,105,000 | 12,138,521 |
| nssv618049 | Submitted genomic | NC_000006.9:g.(122 12986_?)_(?_122465 07)ins3263 | NCBI35 (hg17) | NC_000006.9 | Chr6 | 12,212,986 | 12,246,507 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv618049 | CHM | NCBI35: NC_000006.9:g.(12212986_?)_(?_12246507)ins3263 | insertion | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |