nsv6628754
- 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:128,294
- 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: 512 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 512 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6628754 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 20,214,842 | 20,343,135 |
| nsv6628754 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187535.1 | Chr3|NT_18 7535.1 | 1 | 69,720 |
| nsv6628754 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 20,256,334 | 20,384,627 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18307668 | duplication | OSC6817 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18307668 | Remapped | Pass | NT_187535.1:g.(?_1 )_(69720_?)dup | GRCh38.p12 | Second Pass | NT_187535.1 | Chr3|NT_18 7535.1 | 1 | 69,720 |
| nssv18307668 | Remapped | Perfect | NC_000003.12:g.(?_ 20214842)_(2034313 5_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 20,214,842 | 20,343,135 |
| nssv18307668 | Submitted genomic | NC_000003.11:g.(?_ 20256334)_(2038462 7_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 20,256,334 | 20,384,627 |