nsv1191774
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:526,224
- Publication(s):Polyak et al. 2015
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: 1468 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1468 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 517 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1191774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 7,562,053 | 8,088,276 |
| nsv1191774 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 7,562,051 | 8,088,274 |
| nsv1191774 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 7,552,051 | 8,078,274 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7465314 | copy number gain | 35331 | Oligo aCGH | Probe signal intensity | nssv7468894, nssv7470506 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7465314 | Remapped | Perfect | NC_000018.10:g.(?_ 7562053)_(8088276_ ?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 7,562,053 | 8,088,276 |
| nssv7465314 | Remapped | Perfect | NC_000018.9:g.(?_7 562051)_(8088274_? )dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 7,562,051 | 8,088,274 |
| nssv7465314 | Submitted genomic | NC_000018.8:g.(?_7 552051)_(8078274_? )dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 7,552,051 | 8,078,274 |