nsv431180
- Organism: Homo sapiens
- Study:nstd12 (Marshall et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:321,146
- Publication(s):Marshall 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: 612 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 612 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 27 SVs from 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv431180 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 58,630,407 | 58,951,552 |
| nsv431180 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 58,857,542 | 59,178,687 |
| nsv431180 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 58,769,193 | 59,090,338 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv563018 | copy number loss | 30193 | SNP array | SNP genotyping analysis | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv563018 | Remapped | Perfect | NC_000002.12:g.(?_ 58630407)_(5895155 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 58,630,407 | 58,951,552 |
| nssv563018 | Remapped | Perfect | NC_000002.11:g.(?_ 58857542)_(5917868 7_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 58,857,542 | 59,178,687 |
| nssv563018 | Submitted genomic | NC_000002.9:g.(?_5 8769193)_(59090338 _?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 58,769,193 | 59,090,338 |