nsv470864
- 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:170,015
- 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: 345 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 345 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv470864 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 147,218,029 | 147,388,043 |
| nsv470864 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 147,539,165 | 147,709,179 |
| nsv470864 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 147,580,858 | 147,750,872 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv544734 | copy number loss | HGDP00864 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 35 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv544734 | Remapped | Perfect | NC_000006.12:g.(?_ 147218029)_(147388 043_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 147,218,029 | 147,388,043 |
| nssv544734 | Remapped | Perfect | NC_000006.11:g.(?_ 147539165)_(147709 179_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 147,539,165 | 147,709,179 |
| nssv544734 | Submitted genomic | NC_000006.10:g.(?_ 147580858)_(147750 872_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 147,580,858 | 147,750,872 |