nsv6626682
- 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:400,652
- 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: 1278 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 1278 SVs from 74 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6626682 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 25,090,818 | 25,491,469 |
| nsv6626682 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 25,071,454 | 25,472,105 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18320990 | duplication | OSC1075 | SNP array | Probe signal intensity | nssv18320070, nssv18320697, nssv18320989 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18320990 | Remapped | Perfect | NC_000020.11:g.(?_ 25090818)_(2549146 9_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 25,090,818 | 25,491,469 |
| nssv18320990 | Submitted genomic | NC_000020.10:g.(?_ 25071454)_(2547210 5_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 25,071,454 | 25,472,105 |