nsv984539
- 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:38,780
- 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: 204 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 204 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984539 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 195,225,071 | 195,263,850 |
| nsv984539 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 194,945,800 | 194,984,579 |
| nsv984539 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 196,427,089 | 196,465,868 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217095 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217095 | Remapped | Perfect | NC_000003.12:g.(19 5225071_?)_(?_1952 63850)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,225,071 | 195,263,850 |
| nssv3217095 | Remapped | Perfect | NC_000003.11:g.(19 4945800_?)_(?_1949 84579)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 194,945,800 | 194,984,579 |
| nssv3217095 | Submitted genomic | NC_000003.10:g.(19 6427089_?)_(?_1964 65868)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 196,427,089 | 196,465,868 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217095 | NCBI36: NC_000003.10:g.(196427089_?)_(?_196465868)del | copy number loss | Glomerulonephritis, IGA | association | Submitter |