nsv430378
- 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:183,741
- 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: 541 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 541 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv430378 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 40,505,468 | 40,689,208 |
| nsv430378 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 40,527,018 | 40,710,758 |
| nsv430378 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000011.8 | Chr11 | 40,483,594 | 40,667,334 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv561420 | copy number gain | 47544L | SNP array | SNP genotyping analysis | 11 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv561420 | Remapped | Perfect | NC_000011.10:g.(?_ 40505468)_(4068920 8_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 40,505,468 | 40,689,208 |
| nssv561420 | Remapped | Perfect | NC_000011.9:g.(?_4 0527018)_(40710758 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 40,527,018 | 40,710,758 |
| nssv561420 | Submitted genomic | NC_000011.8:g.(?_4 0483594)_(40667334 _?)dup | NCBI35 (hg17) | NC_000011.8 | Chr11 | 40,483,594 | 40,667,334 |