nsv1352783
- Organism: Homo sapiens
- Study:nstd122 (Duyzend et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:122,942
- Publication(s):Duyzend 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: 814 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 822 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 347 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1352783 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 38,472,263 | 38,595,204 |
| nsv1352783 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 38,761,191 | 38,888,335 |
| nsv1352783 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 38,801,197 | 38,928,341 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv7913713 | copy number loss | SNP array | Probe signal intensity |
| nssv8418815 | copy number gain | SNP array | Probe signal intensity |
| nssv8430575 | copy number gain | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7913713 | Remapped | Good | NC_000010.11:g.(?_ 38472263)_(3859520 4_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 38,472,263 | 38,595,204 |
| nssv8418815 | Remapped | Good | NC_000010.11:g.(?_ 38472263)_(3859520 4_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 38,472,263 | 38,595,204 |
| nssv8430575 | Remapped | Good | NC_000010.11:g.(?_ 38472263)_(3859520 4_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 38,472,263 | 38,595,204 |
| nssv7913713 | Remapped | Perfect | NC_000010.10:g.(?_ 38761191)_(3888833 5_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 38,761,191 | 38,888,335 |
| nssv8418815 | Remapped | Perfect | NC_000010.10:g.(?_ 38761191)_(3888833 5_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 38,761,191 | 38,888,335 |
| nssv8430575 | Remapped | Perfect | NC_000010.10:g.(?_ 38761191)_(3888833 5_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 38,761,191 | 38,888,335 |
| nssv7913713 | Submitted genomic | NC_000010.9:g.(?_3 8801197)_(38928341 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 38,801,197 | 38,928,341 | ||
| nssv8418815 | Submitted genomic | NC_000010.9:g.(?_3 8801197)_(38928341 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 38,801,197 | 38,928,341 | ||
| nssv8430575 | Submitted genomic | NC_000010.9:g.(?_3 8801197)_(38928341 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 38,801,197 | 38,928,341 |