nsv1189416
- 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:426,263
- 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: 2183 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 2183 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 606 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1189416 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 161,672,047 | 162,098,309 |
| nsv1189416 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 162,093,079 | 162,519,341 |
| nsv1189416 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 162,013,069 | 162,439,331 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv7470771 | copy number loss | 50116 | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7470771 | Remapped | Perfect | NC_000006.12:g.(?_ 161672047)_(162098 309_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 161,672,047 | 162,098,309 |
| nssv7470771 | Remapped | Perfect | NC_000006.11:g.(?_ 162093079)_(162519 341_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 162,093,079 | 162,519,341 |
| nssv7470771 | Submitted genomic | NC_000006.10:g.(?_ 162013069)_(162439 331_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 162,013,069 | 162,439,331 |