nsv984444
- 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:106,575
- 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: 458 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 458 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 145 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984444 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 185,096,233 | 185,202,807 |
| nsv984444 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 185,960,960 | 186,067,534 |
| nsv984444 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 185,669,205 | 185,775,779 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217087 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217087 | Remapped | Perfect | NC_000002.12:g.(18 5096233_?)_(?_1852 02807)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 185,096,233 | 185,202,807 |
| nssv3217087 | Remapped | Perfect | NC_000002.11:g.(18 5960960_?)_(?_1860 67534)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,960,960 | 186,067,534 |
| nssv3217087 | Submitted genomic | NC_000002.10:g.(18 5669205_?)_(?_1857 75779)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 185,669,205 | 185,775,779 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217087 | NCBI36: NC_000002.10:g.(185669205_?)_(?_185775779)dup | copy number gain | Glomerulonephritis, IGA | association | Submitter |