nsv1329594
- 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:557,428
- 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: 1817 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1817 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 484 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1329594 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 120,883,645 | 121,441,072 |
| nsv1329594 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 120,219,340 | 120,776,767 |
| nsv1329594 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 120,247,239 | 120,804,666 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv8308975 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv8308975 | Remapped | Perfect | NC_000005.10:g.(?_ 120883645)_(121441 072_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,883,645 | 121,441,072 |
| nssv8308975 | Remapped | Perfect | NC_000005.9:g.(?_1 20219340)_(1207767 67_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 120,219,340 | 120,776,767 |
| nssv8308975 | Submitted genomic | NC_000005.8:g.(?_1 20247239)_(1208046 66_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 120,247,239 | 120,804,666 |