nsv984469
- 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:28,600
- 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: 892 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 892 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 424 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984469 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 133,096,799 | 133,125,398 |
| nsv984469 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 134,910,303 | 134,938,902 |
| nsv984469 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 134,760,293 | 134,788,892 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217120 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217120 | Remapped | Perfect | NC_000010.11:g.(13 3096799_?)_(?_1331 25398)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,096,799 | 133,125,398 |
| nssv3217120 | Remapped | Perfect | NC_000010.10:g.(13 4910303_?)_(?_1349 38902)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 134,910,303 | 134,938,902 |
| nssv3217120 | Submitted genomic | NC_000010.9:g.(134 760293_?)_(?_13478 8892)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 134,760,293 | 134,788,892 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217120 | NCBI36: NC_000010.9:g.(134760293_?)_(?_134788892)del | copy number loss | Glomerulonephritis, IGA | association | Submitter |