nsv1390400
- Organism: Homo sapiens
- Study:nstd122 (Duyzend et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:467,553
- 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: 2400 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 2400 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 843 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1390400 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 27,310,906 | 27,778,458 |
| nsv1390400 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 27,801,814 | 28,269,366 |
| nsv1390400 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 32,493,654 | 32,961,206 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv8600315 | copy number loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv8600315 | Remapped | Perfect | NC_000019.10:g.(?_ 27310906)_(2777845 8_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,310,906 | 27,778,458 |
| nssv8600315 | Remapped | Perfect | NC_000019.9:g.(?_2 7801814)_(28269366 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,801,814 | 28,269,366 |
| nssv8600315 | Submitted genomic | NC_000019.8:g.(?_3 2493654)_(32961206 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,493,654 | 32,961,206 |