nsv984457
- 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:39,888
- 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: 658 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 658 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 304 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984457 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 240,764,867 | 240,804,754 |
| nsv984457 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 241,704,284 | 241,744,171 |
| nsv984457 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 241,352,957 | 241,392,844 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217078 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217078 | Remapped | Perfect | NC_000002.12:g.(24 0764867_?)_(?_2408 04754)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 240,764,867 | 240,804,754 |
| nssv3217078 | Remapped | Perfect | NC_000002.11:g.(24 1704284_?)_(?_2417 44171)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 241,704,284 | 241,744,171 |
| nssv3217078 | Submitted genomic | NC_000002.10:g.(24 1352957_?)_(?_2413 92844)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 241,352,957 | 241,392,844 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217078 | NCBI36: NC_000002.10:g.(241352957_?)_(?_241392844)del | copy number loss | Glomerulonephritis, IGA | association | Submitter |