nsv984500
- 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:238,727
- 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: 560 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 560 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 150 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984500 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 61,070,744 | 61,309,470 |
| nsv984500 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 61,104,648 | 61,343,374 |
| nsv984500 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 59,662,149 | 59,900,875 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217140 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217140 | Remapped | Perfect | NC_000016.10:g.(61 070744_?)_(?_61309 470)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 61,070,744 | 61,309,470 |
| nssv3217140 | Remapped | Perfect | NC_000016.9:g.(611 04648_?)_(?_613433 74)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 61,104,648 | 61,343,374 |
| nssv3217140 | Submitted genomic | NC_000016.8:g.(596 62149_?)_(?_599008 75)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 59,662,149 | 59,900,875 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217140 | NCBI36: NC_000016.8:g.(59662149_?)_(?_59900875)dup | copy number gain | Glomerulonephritis, IGA | association | Submitter |