nsv6628545
- 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:246,849
- 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: 864 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 864 SVs from 59 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6628545 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 179,242,956 | 179,489,804 |
| nsv6628545 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 178,960,744 | 179,207,592 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18295804 | duplication | OSC4480 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18295804 | Remapped | Perfect | NC_000003.12:g.(?_ 179242956)_(179489 804_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 179,242,956 | 179,489,804 |
| nssv18295804 | Submitted genomic | NC_000003.11:g.(?_ 178960744)_(179207 592_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 178,960,744 | 179,207,592 |