nsv482878
- 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:202,987
- 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: 1687 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1687 SVs from 90 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482878 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 1,250,275 | 1,453,261 |
| nsv482878 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 1,289,911 | 1,492,897 |
| nsv482878 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000007.10 | Chr7 | 1,034,249 | 1,237,235 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3006554 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3006554 | Remapped | Perfect | NC_000007.14:g.(?_ 1250275)_(1453261_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 1,250,275 | 1,453,261 |
| nssv3006554 | Remapped | Perfect | NC_000007.13:g.(?_ 1289911)_(1492897_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 1,289,911 | 1,492,897 |
| nssv3006554 | Submitted genomic | NC_000007.10:g.(?_ 1034249)_(1237235_ ?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 1,034,249 | 1,237,235 |