nsv3318793
- Organism: Homo sapiens
- Study:nstd157 (Frenkel 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:82,247
- Publication(s):Frenkel 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: 1249 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 1210 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318793 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 10,653,806 | 10,736,052 |
| nsv3318793 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 10,776,405 | 10,858,651 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14471966 | copy number gain | M2512 | SNP array | SNP genotyping analysis | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14471966 | Remapped | Perfect | NC_000021.9:g.(?_1 0653806)_(10736052 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,653,806 | 10,736,052 |
| nssv14471966 | Submitted genomic | NC_000021.8:g.(?_1 0776405)_(10858651 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,776,405 | 10,858,651 |