nsv4370128
- 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:52,149
- 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: 279 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 279 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4370128 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 24,900,047 | 24,952,195 |
| nsv4370128 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 24,880,683 | 24,932,831 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15675272 | copy number gain | 228825 | SNP array | Genotyping | 28 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15675272 | Remapped | Perfect | NC_000020.11:g.(?_ 24900047)_(2495219 5_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 24,900,047 | 24,952,195 |
| nssv15675272 | Submitted genomic | NC_000020.10:g.(?_ 24880683)_(2493283 1_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 24,880,683 | 24,932,831 |