nsv470452
- Organism: Homo sapiens
- Study:nstd30 (Jakobsson et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:269,537
- Publication(s):Jakobsson et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1491 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1491 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 643 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv470452 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 35,593,040 | 35,862,576 |
| nsv470452 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 35,818,106 | 36,087,642 |
| nsv470452 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 35,671,610 | 35,941,146 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv547189 | copy number loss | HGDP01382 | SNP array | SNP genotyping analysis | 1 | Heterozygous | nssv547312, nssv547487 |
| nssv547192 | copy number loss | HGDP01060 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 13 |
| nssv547191 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv547189 | Remapped | Perfect | NC_000002.12:g.(?_ 35593040)_(3586257 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 35,593,040 | 35,862,576 |
| nssv547192 | Remapped | Perfect | NC_000002.12:g.(?_ 35690799)_(3571521 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 35,690,799 | 35,715,219 |
| nssv547191 | Remapped | Perfect | NC_000002.12:g.(?_ 35690799)_(3572200 5_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 35,690,799 | 35,722,005 |
| nssv547189 | Remapped | Perfect | NC_000002.11:g.(?_ 35818106)_(3608764 2_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 35,818,106 | 36,087,642 |
| nssv547192 | Remapped | Perfect | NC_000002.11:g.(?_ 35915865)_(3594028 5_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 35,915,865 | 35,940,285 |
| nssv547191 | Remapped | Perfect | NC_000002.11:g.(?_ 35915865)_(3594707 1_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 35,915,865 | 35,947,071 |
| nssv547189 | Submitted genomic | NC_000002.10:g.(?_ 35671610)_(3594114 6_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 35,671,610 | 35,941,146 | ||
| nssv547192 | Submitted genomic | NC_000002.10:g.(?_ 35769369)_(3579378 9_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 35,769,369 | 35,793,789 | ||
| nssv547191 | Submitted genomic | NC_000002.10:g.(?_ 35769369)_(3580057 5_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 35,769,369 | 35,800,575 |