nsv984446
- 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:94,877
- 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: 445 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 445 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 113 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984446 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 130,914,662 | 131,009,538 |
| nsv984446 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 131,672,235 | 131,767,111 |
| nsv984446 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 131,388,705 | 131,483,581 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217072 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217072 | Remapped | Perfect | NC_000002.12:g.(13 0914662_?)_(?_1310 09538)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 130,914,662 | 131,009,538 |
| nssv3217072 | Remapped | Perfect | NC_000002.11:g.(13 1672235_?)_(?_1317 67111)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 131,672,235 | 131,767,111 |
| nssv3217072 | Submitted genomic | NC_000002.10:g.(13 1388705_?)_(?_1314 83581)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 131,388,705 | 131,483,581 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217072 | NCBI36: NC_000002.10:g.(131388705_?)_(?_131483581)del | copy number loss | Glomerulonephritis, IGA | association | Submitter |