nsv482770
- Organism: Homo sapiens
- Study:nstd40 (Sharp et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:150,002
- Publication(s):Sharp et al. 2006
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: 724 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 724 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482770 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 32,177,694 | 32,327,695 |
| nsv482770 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 32,179,316 | 32,329,317 |
| nsv482770 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000004.8 | Chr4 | 32,043,999 | 32,194,000 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3008072 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3008072 | Remapped | Perfect | NC_000004.12:g.(?_ 32177694)_(3232769 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 32,177,694 | 32,327,695 |
| nssv3008072 | Remapped | Perfect | NC_000004.11:g.(?_ 32179316)_(3232931 7_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 32,179,316 | 32,329,317 |
| nssv3008072 | Submitted genomic | NC_000004.8:g.(?_3 2043999)_(32194000 _?)dup | NCBI34 (hg16) | NC_000004.8 | Chr4 | 32,043,999 | 32,194,000 |