nsv470419
- 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:142,861
- 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: 521 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 521 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 186 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv470419 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 52,006,180 | 52,149,040 |
| nsv470419 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 49,532,550 | 49,675,410 |
| nsv470419 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 47,786,548 | 47,929,408 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv547084 | copy number gain | HGDP00622 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv547084 | Remapped | Perfect | NC_000018.10:g.(?_ 52006180)_(5214904 0_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 52,006,180 | 52,149,040 |
| nssv547084 | Remapped | Perfect | NC_000018.9:g.(?_4 9532550)_(49675410 _?)dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 49,532,550 | 49,675,410 |
| nssv547084 | Submitted genomic | NC_000018.8:g.(?_4 7786548)_(47929408 _?)dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 47,786,548 | 47,929,408 |