nsv428453
- Organism: Homo sapiens
- Study:nstd8 (Perry et al. 2008b)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:121,163
- Publication(s):Perry et al. 2008
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: 411 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 411 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv428453 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 146,414,801 | 146,535,963 |
| nsv428453 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 147,335,953 | 147,457,115 |
| nsv428453 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 147,555,403 | 147,676,565 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv450177 | copy number gain | HGDP01093 | BAC aCGH | Probe signal intensity | 95 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv450177 | Remapped | Perfect | NC_000004.12:g.(?_ 146414801)_(146535 963_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 146,414,801 | 146,535,963 |
| nssv450177 | Remapped | Perfect | NC_000004.11:g.(?_ 147335953)_(147457 115_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 147,335,953 | 147,457,115 |
| nssv450177 | Submitted genomic | NC_000004.10:g.(?_ 147555403)_(147676 565_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 147,555,403 | 147,676,565 |