nsv6627483
- 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:457,940
- 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: 2664 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 2660 SVs from 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627483 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 48,759,275 | 49,217,214 |
| nsv6627483 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 49,155,087 | 49,613,140 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18281791 | duplication | OSC2159 | SNP array | Probe signal intensity | nssv18282101, nssv18282724 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18281791 | Remapped | Good | NC_000022.11:g.(?_ 48759275)_(4921721 4_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 48,759,275 | 49,217,214 |
| nssv18281791 | Submitted genomic | NC_000022.10:g.(?_ 49155087)_(4961314 0_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 49,155,087 | 49,613,140 |