nsv1016726
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:66,201
- Publication(s):Coe et al. 2014
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: 597 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 597 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 191 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1016726 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 143,251,666 | 143,317,866 |
| nsv1016726 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 144,333,836 | 144,400,036 |
| nsv1016726 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 144,405,211 | 144,471,411 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3690099 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3690099 | Remapped | Perfect | NC_000008.11:g.(?_ 143251666)_(143317 866_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 143,251,666 | 143,317,866 |
| nssv3690099 | Remapped | Perfect | NC_000008.10:g.(?_ 144333836)_(144400 036_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 144,333,836 | 144,400,036 |
| nssv3690099 | Submitted genomic | NC_000008.9:g.(?_1 44405211)_(1444714 11_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 144,405,211 | 144,471,411 |