nsv483056
- Organism: Homo sapiens
- Study:nstd41 (Iafrate et al. 2004)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:171,256
- Publication(s):Iafrate et al. 2004
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: 797 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 800 SVs from 61 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv483056 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 20,688,190 | 20,859,445 |
| nsv483056 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 22,060,504 | 22,231,763 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv2996198 | copy number gain | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2996198 | Remapped | Good | NC_000021.9:g.(?_2 0688190)_(20859445 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 20,688,190 | 20,859,445 |
| nssv2996198 | Submitted genomic | NC_000021.8:g.(?_2 2060504)_(22231763 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 22,060,504 | 22,231,763 |