nsv430421
- Organism: Homo sapiens
- Study:nstd12 (Marshall et al. 2008)
- Variant Type:copy number variation
- Method Type:Merging, SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:179,274
- 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: 636 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 636 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 35 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv430421 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 99,349,186 | 99,528,459 |
| nsv430421 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 99,219,917 | 99,399,190 |
| nsv430421 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000011.8 | Chr11 | 98,725,127 | 98,904,400 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv561493 | copy number gain | 60351 | Merging, SNP array | Merging, SNP genotyping analysis | 13 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv561493 | Remapped | Perfect | NC_000011.10:g.(?_ 99349186)_(9952845 9_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 99,349,186 | 99,528,459 |
| nssv561493 | Remapped | Perfect | NC_000011.9:g.(?_9 9219917)_(99399190 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 99,219,917 | 99,399,190 |
| nssv561493 | Submitted genomic | NC_000011.8:g.(?_9 8725127)_(98904400 _?)dup | NCBI35 (hg17) | NC_000011.8 | Chr11 | 98,725,127 | 98,904,400 |