nsv1319539
- Organism: Homo sapiens
- Study:nstd122 (Duyzend et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:510,190
- Publication(s):Duyzend et al. 2015
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: 1612 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1612 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 413 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1319539 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 82,833,823 | 83,344,012 |
| nsv1319539 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 82,882,974 | 83,393,163 |
| nsv1319539 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 82,965,664 | 83,475,853 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv7685755 | copy number loss | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7685755 | Remapped | Perfect | NC_000003.12:g.(?_ 82833823)_(8334401 2_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 82,833,823 | 83,344,012 |
| nssv7685755 | Remapped | Perfect | NC_000003.11:g.(?_ 82882974)_(8339316 3_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 82,882,974 | 83,393,163 |
| nssv7685755 | Submitted genomic | NC_000003.10:g.(?_ 82965664)_(8347585 3_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 82,965,664 | 83,475,853 |