nsv6628823
- 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:51,392
- 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: 610 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 612 SVs from 62 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6628823 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 40,338 | 91,729 |
| nsv6628823 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 82,010 | 133,412 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18295924 | duplication | OSC4573 | SNP array | Probe signal intensity | nssv18295381, nssv18295608 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18295924 | Remapped | Good | NC_000003.12:g.(?_ 40338)_(91729_?)du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 40,338 | 91,729 |
| nssv18295924 | Submitted genomic | NC_000003.11:g.(?_ 82010)_(133412_?)d up | GRCh37 (hg19) | NC_000003.11 | Chr3 | 82,010 | 133,412 |