nsv470755
- 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:172,953
- 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: 1066 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1066 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 326 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv470755 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 189,381,570 | 189,554,522 |
| nsv470755 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 189,350,700 | 189,523,652 |
| nsv470755 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 187,617,323 | 187,790,275 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv544371 | copy number gain | HGDP00544 | SNP array | SNP genotyping analysis | 3 | 14 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv544371 | Remapped | Perfect | NC_000001.11:g.(?_ 189381570)_(189554 522_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,381,570 | 189,554,522 |
| nssv544371 | Remapped | Perfect | NC_000001.10:g.(?_ 189350700)_(189523 652_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,350,700 | 189,523,652 |
| nssv544371 | Submitted genomic | NC_000001.9:g.(?_1 87617323)_(1877902 75_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,617,323 | 187,790,275 |