nsv470191
- 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:296,378
- 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: 1442 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1442 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 563 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv470191 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 14,504,729 | 14,801,106 |
| nsv470191 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 14,362,238 | 14,658,615 |
| nsv470191 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 14,406,609 | 14,702,986 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv546685 | copy number loss | HGDP00631 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv546685 | Remapped | Perfect | NC_000008.11:g.(?_ 14504729)_(1480110 6_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 14,504,729 | 14,801,106 |
| nssv546685 | Remapped | Perfect | NC_000008.10:g.(?_ 14362238)_(1465861 5_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 14,362,238 | 14,658,615 |
| nssv546685 | Submitted genomic | NC_000008.9:g.(?_1 4406609)_(14702986 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 14,406,609 | 14,702,986 |