nsv1195968
- 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:79,187
- 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: 671 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 671 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 344 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1195968 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 16,319,228 | 16,398,414 |
| nsv1195968 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 16,176,737 | 16,255,923 |
| nsv1195968 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 16,221,108 | 16,300,294 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7466871 | copy number loss | 18917 | Oligo aCGH | Probe signal intensity | nssv7459587, nssv7473621 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7466871 | Remapped | Perfect | NC_000008.11:g.(?_ 16319228)_(1639841 4_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 16,319,228 | 16,398,414 |
| nssv7466871 | Remapped | Perfect | NC_000008.10:g.(?_ 16176737)_(1625592 3_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 16,176,737 | 16,255,923 |
| nssv7466871 | Submitted genomic | NC_000008.9:g.(?_1 6221108)_(16300294 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 16,221,108 | 16,300,294 |