nsv834016
- 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:220,313
- 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: 841 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 841 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv834016 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 56,865,142 | 57,085,454 |
| nsv834016 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 55,440,198 | 55,660,510 |
| nsv834016 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000020.9 | Chr20 | 54,873,605 | 55,093,917 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1455149 | 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1455149 | Remapped | Perfect | NC_000020.11:g.(56 865142_?)_(?_57085 454)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 56,865,142 | 57,085,454 |
| nssv1455149 | Remapped | Perfect | NC_000020.10:g.(55 440198_?)_(?_55660 510)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 55,440,198 | 55,660,510 |
| nssv1455149 | Submitted genomic | NC_000020.9:g.(548 73605_?)_(?_550939 17)del | NCBI35 (hg17) | NC_000020.9 | Chr20 | 54,873,605 | 55,093,917 |