nsv6290083
- 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:46,027
- 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: 671 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 671 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290083 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 160,943 | 206,969 |
| nsv6290083 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 202,626 | 248,652 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17955712 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955712 | Remapped | Perfect | NC_000003.12:g.(?_ 160943)_(206969_?) dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 160,943 | 206,969 |
| nssv17955712 | Submitted genomic | NC_000003.11:g.(?_ 202626)_(248652_?) dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 202,626 | 248,652 |