nsv6290053
- 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:106,208
- 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: 1396 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1407 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290053 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 20,412,607 | 20,518,814 |
| nsv6290053 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 20,591,370 | 20,701,620 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17955793 | copy number loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955793 | Remapped | Good | NC_000019.10:g.(?_ 20412607)_(2051881 4_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,412,607 | 20,518,814 |
| nssv17955793 | Submitted genomic | NC_000019.9:g.(?_2 0591370)_(20701620 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,591,370 | 20,701,620 |