nsv1360113
- 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:670,494
- 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: 2461 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 2461 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 772 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1360113 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 54,924,456 | 55,594,949 |
| nsv1360113 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 56,684,216 | 57,354,709 |
| nsv1360113 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 56,354,222 | 57,024,715 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv7917861 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv7917861 | Remapped | Perfect | NC_000010.11:g.(?_ 54924456)_(5559494 9_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 54,924,456 | 55,594,949 |
| nssv7917861 | Remapped | Perfect | NC_000010.10:g.(?_ 56684216)_(5735470 9_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,684,216 | 57,354,709 |
| nssv7917861 | Submitted genomic | NC_000010.9:g.(?_5 6354222)_(57024715 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 56,354,222 | 57,024,715 |