nsv984553
- 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:104,536
- 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: 439 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 439 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 142 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984553 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 30,833,254 | 30,937,789 |
| nsv984553 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 30,690,770 | 30,795,305 |
| nsv984553 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 30,810,312 | 30,914,847 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217172 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217172 | Remapped | Perfect | NC_000008.11:g.(30 833254_?)_(?_30937 789)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,833,254 | 30,937,789 |
| nssv3217172 | Remapped | Perfect | NC_000008.10:g.(30 690770_?)_(?_30795 305)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 30,690,770 | 30,795,305 |
| nssv3217172 | Submitted genomic | NC_000008.9:g.(308 10312_?)_(?_309148 47)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 30,810,312 | 30,914,847 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217172 | NCBI36: NC_000008.9:g.(30810312_?)_(?_30914847)dup | copy number gain | Glomerulonephritis, IGA | association | Submitter |