nsv4369498
- 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:30,090,512
- 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: 88679 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 88724 SVs from 141 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4369498 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 14,175,406 | 44,265,917 |
| nsv4369498 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 15,547,727 | 45,685,800 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15637161 | copy number gain | 12-4855-002 | SNP array | Genotyping | 26 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15637161 | Remapped | Good | NC_000021.9:g.(?_1 4175406)_(44265917 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 14,175,406 | 44,265,917 |
| nssv15637161 | Submitted genomic | NC_000021.8:g.(?_1 5547727)_(45685800 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,547,727 | 45,685,800 |