nsv6290056
- 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:16,998
- 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: 269 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 269 SVs from 40 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6290056 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 45,941,807 | 45,958,804 |
nsv6290056 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 47,361,721 | 47,378,718 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17955792 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv17955792 | Remapped | Perfect | NC_000021.9:g.(?_4 5941807)_(45958804 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 45,941,807 | 45,958,804 |
nssv17955792 | Submitted genomic | NC_000021.8:g.(?_4 7361721)_(47378718 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 47,361,721 | 47,378,718 |