nsv984515
- 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:39,324
- 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: 205 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 205 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 43 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984515 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 11,026,594 | 11,065,917 |
| nsv984515 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 11,137,270 | 11,176,593 |
| nsv984515 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 10,998,270 | 11,037,593 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217195 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217195 | Remapped | Perfect | NC_000019.10:g.(11 026594_?)_(?_11065 917)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 11,026,594 | 11,065,917 |
| nssv3217195 | Remapped | Perfect | NC_000019.9:g.(111 37270_?)_(?_111765 93)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 11,137,270 | 11,176,593 |
| nssv3217195 | Submitted genomic | NC_000019.8:g.(109 98270_?)_(?_110375 93)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 10,998,270 | 11,037,593 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217195 | NCBI36: NC_000019.8:g.(10998270_?)_(?_11037593)del | copy number loss | Glomerulonephritis, IGA | association | Submitter |