nsv6628612
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:75,829
- 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: 451 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 451 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6628612 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 100,633,265 | 100,709,093 |
| nsv6628612 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 100,352,109 | 100,427,937 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18283337 | duplication | OSC2409 | SNP array | Probe signal intensity | nssv18283335, nssv18283336 |
| nssv18294580 | duplication | OSC4246 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18283337 | Remapped | Perfect | NC_000003.12:g.(?_ 100633265)_(100709 093_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 100,633,265 | 100,709,093 |
| nssv18294580 | Remapped | Perfect | NC_000003.12:g.(?_ 100633265)_(100709 093_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 100,633,265 | 100,709,093 |
| nssv18283337 | Submitted genomic | NC_000003.11:g.(?_ 100352109)_(100427 937_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 100,352,109 | 100,427,937 | ||
| nssv18294580 | Submitted genomic | NC_000003.11:g.(?_ 100352109)_(100427 937_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 100,352,109 | 100,427,937 |