nsv984528
- 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:42,376
- 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: 216 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 79 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984528 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 13,868,012 | 13,910,387 |
| nsv984528 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 14,008,137 | 14,050,512 |
| nsv984528 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 13,925,588 | 13,967,963 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217070 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217070 | Remapped | Perfect | NC_000002.12:g.(13 868012_?)_(?_13910 387)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 13,868,012 | 13,910,387 |
| nssv3217070 | Remapped | Perfect | NC_000002.11:g.(14 008137_?)_(?_14050 512)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 14,008,137 | 14,050,512 |
| nssv3217070 | Submitted genomic | NC_000002.10:g.(13 925588_?)_(?_13967 963)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 13,925,588 | 13,967,963 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217070 | NCBI36: NC_000002.10:g.(13925588_?)_(?_13967963)dup | copy number gain | Glomerulonephritis, IGA | association | Submitter |