nsv984566
- 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:202,235
- 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: 992 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 992 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 375 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984566 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 167,891,580 | 168,093,814 |
| nsv984566 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 168,812,731 | 169,014,965 |
| nsv984566 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 169,049,306 | 169,251,540 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217102 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217102 | Remapped | Perfect | NC_000004.12:g.(16 7891580_?)_(?_1680 93814)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 167,891,580 | 168,093,814 |
| nssv3217102 | Remapped | Perfect | NC_000004.11:g.(16 8812731_?)_(?_1690 14965)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 168,812,731 | 169,014,965 |
| nssv3217102 | Submitted genomic | NC_000004.10:g.(16 9049306_?)_(?_1692 51540)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 169,049,306 | 169,251,540 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217102 | NCBI36: NC_000004.10:g.(169049306_?)_(?_169251540)dup | copy number gain | Glomerulonephritis, IGA | association | Submitter |