nsv6290052
- Organism: Homo sapiens
- Study:nstd218 (Wijesiriwardhana et al. 2021)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:18,974
- Publication(s):Wijesiriwardhana et al. 2021
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: 471 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 471 SVs from 54 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290052 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 79,374,694 | 79,393,667 |
| nsv6290052 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 77,134,694 | 77,153,667 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17955790 | copy number gain | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955790 | Remapped | Perfect | NC_000018.10:g.(?_ 79374694)_(7939366 7_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 79,374,694 | 79,393,667 |
| nssv17955790 | Submitted genomic | NC_000018.9:g.(?_7 7134694)_(77153667 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 77,134,694 | 77,153,667 |