nsv508853
- 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:41,975
- 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: 219 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 219 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 9 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv508853 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 104,791,117 | 104,833,091 |
| nsv508853 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 105,407,575 | 105,449,549 |
| nsv508853 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 104,866,093 | 104,908,067 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv618007 | insertion | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
| nssv619912 | insertion | GM10860 | Optical mapping | Optical mapping | 1,998 | |||
| nssv621171 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv618007 | Remapped | Perfect | NC_000002.12:g.(10 4791117_?)_(?_1048 33091)ins3743 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 104,791,117 | 104,833,091 |
| nssv619912 | Remapped | Perfect | NC_000002.12:g.(10 4791117_?)_(?_1048 33091)ins3560 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 104,791,117 | 104,833,091 |
| nssv621171 | Remapped | Perfect | NC_000002.12:g.(10 4791117_?)_(?_1048 33091)ins4227 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 104,791,117 | 104,833,091 |
| nssv618007 | Remapped | Perfect | NC_000002.11:g.(10 5407575_?)_(?_1054 49549)ins3743 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 105,407,575 | 105,449,549 |
| nssv619912 | Remapped | Perfect | NC_000002.11:g.(10 5407575_?)_(?_1054 49549)ins3560 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 105,407,575 | 105,449,549 |
| nssv621171 | Remapped | Perfect | NC_000002.11:g.(10 5407575_?)_(?_1054 49549)ins4227 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 105,407,575 | 105,449,549 |
| nssv618007 | Submitted genomic | NC_000002.9:g.(104 866093_?)_(?_10490 8067)ins3743 | NCBI35 (hg17) | NC_000002.9 | Chr2 | 104,866,093 | 104,908,067 | ||
| nssv619912 | Submitted genomic | NC_000002.9:g.(104 866093_?)_(?_10490 8067)ins3560 | NCBI35 (hg17) | NC_000002.9 | Chr2 | 104,866,093 | 104,908,067 | ||
| nssv621171 | Submitted genomic | NC_000002.9:g.(104 866093_?)_(?_10490 8067)ins4227 | NCBI35 (hg17) | NC_000002.9 | Chr2 | 104,866,093 | 104,908,067 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv618007 | CHM | NCBI35: NC_000002.9:g.(104866093_?)_(?_104908067)ins3743 | insertion | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |