nsv6632252
- 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:258,048
- 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: 1154 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 1154 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6632252 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 129,854,266 | 130,112,313 |
| nsv6632252 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 130,866,512 | 131,124,559 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18283079 | duplication | OSC2417 | SNP array | Probe signal intensity | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18283079 | Remapped | Perfect | NC_000008.11:g.(?_ 129854266)_(130112 313_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 129,854,266 | 130,112,313 |
| nssv18283079 | Submitted genomic | NC_000008.10:g.(?_ 130866512)_(131124 559_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 130,866,512 | 131,124,559 |