nsv834240
- Organism: Homo sapiens
- Study:nstd68 (Wong et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:104,825
- Publication(s):Wong et al. 2006
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: 1274 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 336 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 1274 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 33 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 | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv834240 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 50,628,582 | - | 50,733,406 |
| nsv834240 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_015148969.1 | Chr22|NW_0 15148969.1 | - | 1 | 69,522 |
| nsv834240 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 51,067,010 | - | 51,171,834 |
| nsv834240 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000022.8 | Chr22 | 49,357,154 | - | 49,461,978 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1456223 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1456224 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1456225 | copy number loss | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv1456223 | Remapped | Pass | NW_015148969.1:g.( ?_1)_(?_69522)del | GRCh38.p12 | Second Pass | NW_015148969.1 | Chr22|NW_0 15148969.1 | - | 1 | 69,522 |
| nssv1456224 | Remapped | Pass | NW_015148969.1:g.( ?_1)_(?_69522)del | GRCh38.p12 | Second Pass | NW_015148969.1 | Chr22|NW_0 15148969.1 | - | 1 | 69,522 |
| nssv1456225 | Remapped | Pass | NW_015148969.1:g.( ?_1)_(?_69522)del | GRCh38.p12 | Second Pass | NW_015148969.1 | Chr22|NW_0 15148969.1 | - | 1 | 69,522 |
| nssv1456223 | Remapped | Perfect | NC_000022.11:g.(50 628582_?)_(?_50733 406)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 50,628,582 | - | 50,733,406 |
| nssv1456224 | Remapped | Perfect | NC_000022.11:g.(50 628582_?)_(?_50733 406)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 50,628,582 | - | 50,733,406 |
| nssv1456225 | Remapped | Perfect | NC_000022.11:g.(50 628582_?)_(?_50733 406)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 50,628,582 | - | 50,733,406 |
| nssv1456223 | Remapped | Perfect | NC_000022.10:g.(51 067010_?)_(?_51171 834)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 51,067,010 | - | 51,171,834 |
| nssv1456224 | Remapped | Perfect | NC_000022.10:g.(51 067010_?)_(?_51171 834)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 51,067,010 | - | 51,171,834 |
| nssv1456225 | Remapped | Perfect | NC_000022.10:g.(51 067010_?)_(?_51171 834)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 51,067,010 | - | 51,171,834 |
| nssv1456223 | Submitted genomic | NC_000022.8:g.(493 57154_?)_(?_494619 78)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 49,357,154 | - | 49,461,978 | ||
| nssv1456224 | Submitted genomic | NC_000022.8:g.(493 57154_?)_(?_494619 78)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 49,357,154 | - | 49,461,978 | ||
| nssv1456225 | Submitted genomic | NC_000022.8:g.(493 57154_?)_(?_494619 78)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 49,357,154 | - | 49,461,978 |