nsv1190749
- 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:59,749
- 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: 277 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 277 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 66 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1190749 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 83,117,329 | 83,177,077 |
| nsv1190749 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 82,413,148 | 82,472,896 |
| nsv1190749 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 82,448,904 | 82,508,652 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7472287 | copy number loss | 14836 | Oligo aCGH | Probe signal intensity | nssv7459759 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7472287 | Remapped | Perfect | NC_000005.10:g.(?_ 83117329)_(8317707 7_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 83,117,329 | 83,177,077 |
| nssv7472287 | Remapped | Perfect | NC_000005.9:g.(?_8 2413148)_(82472896 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 82,413,148 | 82,472,896 |
| nssv7472287 | Submitted genomic | NC_000005.8:g.(?_8 2448904)_(82508652 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 82,448,904 | 82,508,652 |