nsv3318357
- 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:5,368
- 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: 1205 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1205 SVs from 88 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318357 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 818,543 | 823,910 |
| nsv3318357 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 818,658 | 824,025 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14468352 | copy number gain | M2143 | SNP array | SNP genotyping analysis | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14468352 | Remapped | Perfect | NC_000005.10:g.(?_ 818543)_(823910_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 818,543 | 823,910 |
| nssv14468352 | Submitted genomic | NC_000005.9:g.(?_8 18658)_(824025_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 818,658 | 824,025 |