nsv470751
- 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:65,965
- 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: 378 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 378 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 152 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv470751 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 187,762,486 | 187,828,450 |
| nsv470751 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 187,731,617 | 187,797,581 |
| nsv470751 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 185,998,240 | 186,064,204 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv547796 | copy number gain | HGDP00664 | SNP array | SNP genotyping analysis | 3 | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv547796 | Remapped | Perfect | NC_000001.11:g.(?_ 187762486)_(187828 450_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 187,762,486 | 187,828,450 |
| nssv547796 | Remapped | Perfect | NC_000001.10:g.(?_ 187731617)_(187797 581_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 187,731,617 | 187,797,581 |
| nssv547796 | Submitted genomic | NC_000001.9:g.(?_1 85998240)_(1860642 04_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 185,998,240 | 186,064,204 |