nsv4366940
- 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:165,675
- 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: 677 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 679 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4366940 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 58,279,847 | 58,445,521 |
| nsv4366940 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 58,791,213 | 58,956,888 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15622226 | copy number gain | 1-0232-003 | SNP array | Genotyping | 32 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15622226 | Remapped | Good | NC_000019.10:g.(?_ 58279847)_(5844552 1_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 58,279,847 | 58,445,521 |
| nssv15622226 | Submitted genomic | NC_000019.9:g.(?_5 8791213)_(58956888 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 58,791,213 | 58,956,888 |