nsv470644
- 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:295,869
- 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: 979 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 979 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 264 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv470644 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 46,034,919 | 46,330,787 |
| nsv470644 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 46,504,122 | 46,799,990 |
| nsv470644 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 45,573,872 | 45,869,740 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv547574 | copy number gain | HGDP01416 | SNP array | SNP genotyping analysis | 3 | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv547574 | Remapped | Perfect | NC_000014.9:g.(?_4 6034919)_(46330787 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 46,034,919 | 46,330,787 |
| nssv547574 | Remapped | Perfect | NC_000014.8:g.(?_4 6504122)_(46799990 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 46,504,122 | 46,799,990 |
| nssv547574 | Submitted genomic | NC_000014.7:g.(?_4 5573872)_(45869740 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 45,573,872 | 45,869,740 |