nsv870279
- Organism: Homo sapiens
- Study:nstd53 (Tuttelmann et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:245,271
- Publication(s):Tüttelmann et al. 2011
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: 1415 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1415 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 450 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 | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv870279 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 189,347,815 | 189,362,122 | 189,573,391 | 189,593,085 |
| nsv870279 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 189,316,945 | 189,331,252 | 189,542,521 | 189,562,215 |
| nsv870279 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 187,583,568 | 187,597,875 | 187,809,144 | 187,828,838 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1498736 | copy number loss | CONTROL_56 | Oligo aCGH | Probe signal intensity | 33 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1498736 | Remapped | Perfect | NC_000001.11:g.(18 9347815_189362122) _(189573391_189593 085)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,347,815 | 189,362,122 | 189,573,391 | 189,593,085 |
| nssv1498736 | Remapped | Perfect | NC_000001.10:g.(18 9316945_189331252) _(189542521_189562 215)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,316,945 | 189,331,252 | 189,542,521 | 189,562,215 |
| nssv1498736 | Submitted genomic | NC_000001.9:g.(187 583568_187597875)_ (187809144_1878288 38)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,583,568 | 187,597,875 | 187,809,144 | 187,828,838 |