nsv543554
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:59,451,376
- Publication(s):Cooper et al. 2011
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: 141211 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 141098 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 39445 SVs from 45 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv543554 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 141,491 | 59,592,866 |
| nsv543554 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 141,491 | 57,260,098 |
| nsv543554 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 131,491 | 55,411,078 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1169068 | copy number gain | 9883315 | Oligo aCGH | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1169068 | Remapped | Pass | NC_000018.10:g.(?_ 141491)_(59592866_ ?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 141,491 | 59,592,866 |
| nssv1169068 | Remapped | Good | NC_000018.9:g.(?_1 41491)_(57260098_? )dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 141,491 | 57,260,098 |
| nssv1169068 | Submitted genomic | NC_000018.8:g.(?_1 31491)_(55411078_? )dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 131,491 | 55,411,078 |