nsv4382417
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:75,466
- Publication(s):Zarrei et al. 2019
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: 413 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 413 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4382417 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 18,143,296 | 18,218,761 |
| nsv4382417 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 18,123,940 | 18,199,405 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15699226 | copy number gain | 205285 | SNP array | Genotyping | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15699226 | Remapped | Perfect | NC_000020.11:g.(?_ 18143296)_(1821876 1_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 18,143,296 | 18,218,761 |
| nssv15699226 | Submitted genomic | NC_000020.10:g.(?_ 18123940)_(1819940 5_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 18,123,940 | 18,199,405 |