nsv833348
- Organism: Homo sapiens
- Study:nstd68 (Wong et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:209,872
- 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: 458 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 458 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv833348 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 8,065,541 | 8,275,412 |
| nsv833348 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 8,205,671 | 8,415,542 |
| nsv833348 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 8,156,269 | 8,366,140 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1441786 | copy number gain | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1441786 | Remapped | Perfect | NC_000002.12:g.(80 65541_?)_(?_827541 2)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 8,065,541 | 8,275,412 |
| nssv1441786 | Remapped | Perfect | NC_000002.11:g.(82 05671_?)_(?_841554 2)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 8,205,671 | 8,415,542 |
| nssv1441786 | Submitted genomic | NC_000002.9:g.(815 6269_?)_(?_8366140 )dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 8,156,269 | 8,366,140 |