nsv984502
- 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:22,199
- 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: 269 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 269 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 93 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984502 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 7,101,328 | 7,123,526 |
| nsv984502 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 7,151,329 | 7,173,527 |
| nsv984502 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 7,091,330 | 7,113,528 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217142 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217142 | Remapped | Perfect | NC_000016.10:g.(71 01328_?)_(?_712352 6)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 7,101,328 | 7,123,526 |
| nssv3217142 | Remapped | Perfect | NC_000016.9:g.(715 1329_?)_(?_7173527 )dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 7,151,329 | 7,173,527 |
| nssv3217142 | Submitted genomic | NC_000016.8:g.(709 1330_?)_(?_7113528 )dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 7,091,330 | 7,113,528 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217142 | NCBI36: NC_000016.8:g.(7091330_?)_(?_7113528)dup | copy number gain | Glomerulonephritis, IGA | association | Submitter |