nsv984437
- 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:36,829
- 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: 211 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 211 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 60 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984437 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 47,043,394 | 47,080,222 |
| nsv984437 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 47,270,533 | 47,307,361 |
| nsv984437 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 47,124,037 | 47,160,865 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217082 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217082 | Remapped | Perfect | NC_000002.12:g.(47 043394_?)_(?_47080 222)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 47,043,394 | 47,080,222 |
| nssv3217082 | Remapped | Perfect | NC_000002.11:g.(47 270533_?)_(?_47307 361)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 47,270,533 | 47,307,361 |
| nssv3217082 | Submitted genomic | NC_000002.10:g.(47 124037_?)_(?_47160 865)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 47,124,037 | 47,160,865 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217082 | NCBI36: NC_000002.10:g.(47124037_?)_(?_47160865)del | copy number loss | Glomerulonephritis, IGA | association | Submitter |