nsv470850
- 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:252,510
- 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: 794 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 794 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 262 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv470850 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 101,895,203 | 102,147,712 |
| nsv470850 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 102,343,078 | 102,595,587 |
| nsv470850 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 102,449,771 | 102,702,280 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv544714 | copy number loss | HGDP00876 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 34 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv544714 | Remapped | Perfect | NC_000006.12:g.(?_ 101895203)_(102147 712_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 101,895,203 | 102,147,712 |
| nssv544714 | Remapped | Perfect | NC_000006.11:g.(?_ 102343078)_(102595 587_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 102,343,078 | 102,595,587 |
| nssv544714 | Submitted genomic | NC_000006.10:g.(?_ 102449771)_(102702 280_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 102,449,771 | 102,702,280 |