nsv470093
- 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:172,697
- 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: 943 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 943 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 354 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv470093 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 167,894,196 | 168,066,892 |
| nsv470093 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 168,815,347 | 168,988,043 |
| nsv470093 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 169,051,922 | 169,224,618 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv546393 | copy number loss | HGDP00722 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv546393 | Remapped | Perfect | NC_000004.12:g.(?_ 167894196)_(168066 892_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 167,894,196 | 168,066,892 |
| nssv546393 | Remapped | Perfect | NC_000004.11:g.(?_ 168815347)_(168988 043_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 168,815,347 | 168,988,043 |
| nssv546393 | Submitted genomic | NC_000004.10:g.(?_ 169051922)_(169224 618_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 169,051,922 | 169,224,618 |