nsv471052
- Organism: Homo sapiens
- Study:nstd30 (Jakobsson et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:142,184
- Description:Single-copy duplication
- Publication(s):Jakobsson 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: 380 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 380 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv471052 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 155,268,614 | 155,410,797 |
| nsv471052 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 154,648,174 | 154,790,357 |
| nsv471052 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 154,628,367 | 154,770,550 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv545175 | copy number gain | HGDP01300 | SNP array | SNP genotyping analysis | 3 | nssv546923, nssv547445, nssv545424 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv545175 | Remapped | Perfect | NC_000005.10:g.(?_ 155268614)_(155410 797_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 155,268,614 | 155,410,797 |
| nssv545175 | Remapped | Perfect | NC_000005.9:g.(?_1 54648174)_(1547903 57_?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 154,648,174 | 154,790,357 |
| nssv545175 | Submitted genomic | NC_000005.8:g.(?_1 54628367)_(1547705 50_?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 154,628,367 | 154,770,550 |