nsv470506
- 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:230,261
- 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: 1005 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1005 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 384 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv470506 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 193,810,658 | 194,040,918 |
| nsv470506 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 194,675,382 | 194,905,642 |
| nsv470506 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 194,383,627 | 194,613,887 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv547278 | copy number loss | HGDP00875 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv547278 | Remapped | Perfect | NC_000002.12:g.(?_ 193810658)_(194040 918_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,810,658 | 194,040,918 |
| nssv547278 | Remapped | Perfect | NC_000002.11:g.(?_ 194675382)_(194905 642_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 194,675,382 | 194,905,642 |
| nssv547278 | Submitted genomic | NC_000002.10:g.(?_ 194383627)_(194613 887_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 194,383,627 | 194,613,887 |