nsv984571
- 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:28,826
- 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: 237 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 237 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984571 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 178,254,556 | 178,283,381 |
| nsv984571 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 177,681,557 | 177,710,382 |
| nsv984571 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 177,614,163 | 177,642,988 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217107 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217107 | Remapped | Perfect | NC_000005.10:g.(17 8254556_?)_(?_1782 83381)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 178,254,556 | 178,283,381 |
| nssv3217107 | Remapped | Perfect | NC_000005.9:g.(177 681557_?)_(?_17771 0382)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 177,681,557 | 177,710,382 |
| nssv3217107 | Submitted genomic | NC_000005.8:g.(177 614163_?)_(?_17764 2988)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 177,614,163 | 177,642,988 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217107 | NCBI36: NC_000005.8:g.(177614163_?)_(?_177642988)del | copy number loss | Glomerulonephritis, IGA | association | Submitter |