nsv6629088
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:50,945
- Publication(s):Zarrei et al. 2023
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: 250 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 250 SVs from 43 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6629088 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 11,048,220 | 11,099,164 |
| nsv6629088 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 11,049,844 | 11,100,788 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18324803 | deletion | OSC1822 | SNP array | Probe signal intensity | nssv18324804, nssv18324802, nssv18324801 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18324803 | Remapped | Perfect | NC_000004.12:g.(?_ 11048220)_(1109916 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 11,048,220 | 11,099,164 |
| nssv18324803 | Submitted genomic | NC_000004.11:g.(?_ 11049844)_(1110078 8_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 11,049,844 | 11,100,788 |