nsv509492
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:50,385
- 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: 882 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 882 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 19 SVs from 8 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv509492 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 131,577,604 | 131,627,988 |
| nsv509492 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 132,062,149 | 132,112,533 |
| nsv509492 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 130,728,379 | 130,778,763 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv618098 | insertion | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
| nssv620982 | insertion | GM15510 | Optical mapping | Optical mapping | 1,740 | |||
| nssv618099 | insertion | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
| nssv619621 | insertion | GM10860 | Optical mapping | Optical mapping | 1,998 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv618098 | Remapped | Perfect | NC_000012.12:g.(13 1577604_?)_(?_1316 08534)ins3572 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,577,604 | 131,608,534 |
| nssv620982 | Remapped | Perfect | NC_000012.12:g.(13 1577604_?)_(?_1316 08534)ins3667 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,577,604 | 131,608,534 |
| nssv618099 | Remapped | Perfect | NC_000012.12:g.(13 1608534_?)_(?_1316 27988)ins4302 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,608,534 | 131,627,988 |
| nssv619621 | Remapped | Perfect | NC_000012.12:g.(13 1608534_?)_(?_1316 27988)ins3833 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,608,534 | 131,627,988 |
| nssv618098 | Remapped | Perfect | NC_000012.11:g.(13 2062149_?)_(?_1320 93079)ins3572 | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 132,062,149 | 132,093,079 |
| nssv620982 | Remapped | Perfect | NC_000012.11:g.(13 2062149_?)_(?_1320 93079)ins3667 | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 132,062,149 | 132,093,079 |
| nssv618099 | Remapped | Perfect | NC_000012.11:g.(13 2093079_?)_(?_1321 12533)ins4302 | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 132,093,079 | 132,112,533 |
| nssv619621 | Remapped | Perfect | NC_000012.11:g.(13 2093079_?)_(?_1321 12533)ins3833 | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 132,093,079 | 132,112,533 |
| nssv618098 | Submitted genomic | NC_000012.9:g.(130 728379_?)_(?_13075 9309)ins3572 | NCBI35 (hg17) | NC_000012.9 | Chr12 | 130,728,379 | 130,759,309 | ||
| nssv620982 | Submitted genomic | NC_000012.9:g.(130 728379_?)_(?_13075 9309)ins3667 | NCBI35 (hg17) | NC_000012.9 | Chr12 | 130,728,379 | 130,759,309 | ||
| nssv618099 | Submitted genomic | NC_000012.9:g.(130 759309_?)_(?_13077 8763)ins4302 | NCBI35 (hg17) | NC_000012.9 | Chr12 | 130,759,309 | 130,778,763 | ||
| nssv619621 | Submitted genomic | NC_000012.9:g.(130 759309_?)_(?_13077 8763)ins3833 | NCBI35 (hg17) | NC_000012.9 | Chr12 | 130,759,309 | 130,778,763 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv618098 | CHM | NCBI35: NC_000012.9:g.(130728379_?)_(?_130759309)ins3572 | insertion | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |
| nssv618099 | CHM | NCBI35: NC_000012.9:g.(130759309_?)_(?_130778763)ins4302 | insertion | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |