nsv6627274
- 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:47,590
- 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: 250 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 250 SVs from 39 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627274 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 154,431,266 | 154,478,855 |
| nsv6627274 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 155,287,778 | 155,335,367 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18291055 | duplication | OSC3711 | SNP array | Probe signal intensity | nssv18291354, nssv18290467, nssv18290466 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18291055 | Remapped | Perfect | NC_000002.12:g.(?_ 154431266)_(154478 855_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 154,431,266 | 154,478,855 |
| nssv18291055 | Submitted genomic | NC_000002.11:g.(?_ 155287778)_(155335 367_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 155,287,778 | 155,335,367 |