nsv984514
- 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:46,162
- 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: 218 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 218 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 44 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984514 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 9,749,563 | 9,795,724 |
| nsv984514 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 9,860,239 | 9,906,400 |
| nsv984514 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 9,721,239 | 9,767,400 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217194 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217194 | Remapped | Perfect | NC_000019.10:g.(97 49563_?)_(?_979572 4)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 9,749,563 | 9,795,724 |
| nssv3217194 | Remapped | Perfect | NC_000019.9:g.(986 0239_?)_(?_9906400 )dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 9,860,239 | 9,906,400 |
| nssv3217194 | Submitted genomic | NC_000019.8:g.(972 1239_?)_(?_9767400 )dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 9,721,239 | 9,767,400 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217194 | NCBI36: NC_000019.8:g.(9721239_?)_(?_9767400)dup | copy number gain | Glomerulonephritis, IGA | association | Submitter |