nsv483089
- Organism: Homo sapiens
- Study:nstd41 (Iafrate et al. 2004)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:147,115
- 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: 548 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 548 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv483089 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 87,069,019 | 87,216,133 |
| nsv483089 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 87,612,250 | 87,759,364 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv2996167 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv2996466 | copy number loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv2996167 | Remapped | Perfect | NC_000015.10:g.(?_ 87069019)_(8721613 3_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 87,069,019 | 87,216,133 |
| nssv2996466 | Remapped | Perfect | NC_000015.10:g.(?_ 87069019)_(8721613 3_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 87,069,019 | 87,216,133 |
| nssv2996167 | Submitted genomic | NC_000015.9:g.(?_8 7612250)_(87759364 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 87,612,250 | 87,759,364 | ||
| nssv2996466 | Submitted genomic | NC_000015.9:g.(?_8 7612250)_(87759364 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 87,612,250 | 87,759,364 |