nsv984565
- 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:56,961
- 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: 242 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 242 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 61 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984565 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 107,403,208 | 107,460,168 |
| nsv984565 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 108,324,365 | 108,381,325 |
| nsv984565 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 108,543,814 | 108,600,774 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217101 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217101 | Remapped | Perfect | NC_000004.12:g.(10 7403208_?)_(?_1074 60168)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 107,403,208 | 107,460,168 |
| nssv3217101 | Remapped | Perfect | NC_000004.11:g.(10 8324365_?)_(?_1083 81325)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 108,324,365 | 108,381,325 |
| nssv3217101 | Submitted genomic | NC_000004.10:g.(10 8543814_?)_(?_1086 00774)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 108,543,814 | 108,600,774 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217101 | NCBI36: NC_000004.10:g.(108543814_?)_(?_108600774)dup | copy number gain | Glomerulonephritis, IGA | association | Submitter |