nsv6627146
- 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:160,568
- 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: 599 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 600 SVs from 55 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627146 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 27,828,744 | 27,989,311 |
| nsv6627146 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 29,201,063 | 29,361,630 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18287914 | deletion | OSC3194 | SNP array | Probe signal intensity | 11 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18287914 | Remapped | Perfect | NC_000021.9:g.(?_2 7828744)_(27989311 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 27,828,744 | 27,989,311 |
| nssv18287914 | Submitted genomic | NC_000021.8:g.(?_2 9201063)_(29361630 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 29,201,063 | 29,361,630 |