nsv984505
- Organism: Homo sapiens
- Study:nstd91 (Sallustio et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:28,025
- Publication(s):Sallustio 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: 174 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 173 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv984505 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 51,478,546 | 51,506,570 |
| nsv984505 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 49,555,907 | 49,583,931 |
| nsv984505 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 46,910,906 | 46,938,930 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217185 | copy number gain | SNP array | SNP genotyping analysis | Glomerulonephritis, IGA | association | Submitter |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217185 | Remapped | Perfect | NC_000017.11:g.(51 478546_?)_(?_51506 570)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 51,478,546 | 51,506,570 |
| nssv3217185 | Remapped | Perfect | NC_000017.10:g.(49 555907_?)_(?_49583 931)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 49,555,907 | 49,583,931 |
| nssv3217185 | Submitted genomic | NC_000017.9:g.(469 10906_?)_(?_469389 30)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 46,910,906 | 46,938,930 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217185 | NCBI36: NC_000017.9:g.(46910906_?)_(?_46938930)dup | copy number gain | Glomerulonephritis, IGA | association | Submitter |