nsv471047
- 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:157,961
- 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: 393 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 393 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 103 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv471047 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 130,748,776 | 130,906,736 |
| nsv471047 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 130,084,469 | 130,242,429 |
| nsv471047 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 130,112,368 | 130,270,328 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv545171 | copy number loss | HGDP00676 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv545171 | Remapped | Perfect | NC_000005.10:g.(?_ 130748776)_(130906 736_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 130,748,776 | 130,906,736 |
| nssv545171 | Remapped | Perfect | NC_000005.9:g.(?_1 30084469)_(1302424 29_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 130,084,469 | 130,242,429 |
| nssv545171 | Submitted genomic | NC_000005.8:g.(?_1 30112368)_(1302703 28_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 130,112,368 | 130,270,328 |