nsv1193375
- 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:125,425
- 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: 685 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 685 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 223 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1193375 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 142,076,061 | 142,201,485 |
| nsv1193375 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 143,157,422 | 143,282,846 |
| nsv1193375 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 143,155,329 | 143,280,753 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7471806 | copy number gain | 29175 | Oligo aCGH | Probe signal intensity | nssv7459713 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7471806 | Remapped | Perfect | NC_000008.11:g.(?_ 142076061)_(142201 485_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,076,061 | 142,201,485 |
| nssv7471806 | Remapped | Perfect | NC_000008.10:g.(?_ 143157422)_(143282 846_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 143,157,422 | 143,282,846 |
| nssv7471806 | Submitted genomic | NC_000008.9:g.(?_1 43155329)_(1432807 53_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 143,155,329 | 143,280,753 |