nsv984495
- 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:35,491
- 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: 394 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 394 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 132 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984495 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 2,904,101 | 2,939,591 |
| nsv984495 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 2,943,735 | 2,979,225 |
| nsv984495 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 2,910,261 | 2,945,751 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217161 | copy number loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217161 | Remapped | Perfect | NC_000007.14:g.(29 04101_?)_(?_293959 1)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 2,904,101 | 2,939,591 |
| nssv3217161 | Remapped | Perfect | NC_000007.13:g.(29 43735_?)_(?_297922 5)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 2,943,735 | 2,979,225 |
| nssv3217161 | Submitted genomic | NC_000007.12:g.(29 10261_?)_(?_294575 1)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 2,910,261 | 2,945,751 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217161 | NCBI36: NC_000007.12:g.(2910261_?)_(?_2945751)del | copy number loss | Glomerulonephritis, IGA | association | Submitter |