nsv432483
- 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:140,640
- 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: 550 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 550 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv432483 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 121,770,148 | 121,910,787 |
| nsv432483 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 121,488,995 | 121,629,634 |
| nsv432483 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000003.9 | Chr3 | 122,971,685 | 123,112,324 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv566031 | copy number gain | 58891L | Merging, SNP array | Merging, SNP genotyping analysis | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv566031 | Remapped | Perfect | NC_000003.12:g.(?_ 121770148)_(121910 787_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 121,770,148 | 121,910,787 |
| nssv566031 | Remapped | Perfect | NC_000003.11:g.(?_ 121488995)_(121629 634_?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 121,488,995 | 121,629,634 |
| nssv566031 | Submitted genomic | NC_000003.9:g.(?_1 22971685)_(1231123 24_?)dup | NCBI35 (hg17) | NC_000003.9 | Chr3 | 122,971,685 | 123,112,324 |