nsv834233
- 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:201,768
- 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: 1524 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1521 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 62 SVs from 9 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv834233 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 48,917,869 | 49,119,636 |
| nsv834233 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 49,313,681 | 49,515,360 |
| nsv834233 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000022.8 | Chr22 | 47,634,542 | 47,836,221 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1456207 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1456207 | Remapped | Good | NC_000022.11:g.(48 917869_?)_(?_49119 636)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 48,917,869 | 49,119,636 |
| nssv1456207 | Remapped | Perfect | NC_000022.10:g.(49 313681_?)_(?_49515 360)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 49,313,681 | 49,515,360 |
| nssv1456207 | Submitted genomic | NC_000022.8:g.(476 34542_?)_(?_478362 21)dup | NCBI35 (hg17) | NC_000022.8 | Chr22 | 47,634,542 | 47,836,221 |