nsv984443
- 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:80,996
- 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: 449 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 449 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984443 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 154,294,871 | 154,375,866 |
| nsv984443 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 155,151,384 | 155,232,378 |
| nsv984443 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 154,859,630 | 154,940,624 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217086 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217086 | Remapped | Good | NC_000002.12:g.(15 4294871_?)_(?_1543 75866)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 154,294,871 | 154,375,866 |
| nssv3217086 | Remapped | Perfect | NC_000002.11:g.(15 5151384_?)_(?_1552 32378)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 155,151,384 | 155,232,378 |
| nssv3217086 | Submitted genomic | NC_000002.10:g.(15 4859630_?)_(?_1549 40624)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 154,859,630 | 154,940,624 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217086 | NCBI36: NC_000002.10:g.(154859630_?)_(?_154940624)dup | copy number gain | Glomerulonephritis, IGA | association | Submitter |