nsv984560
- 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:39,752
- 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: 232 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 232 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 78 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 |
---|---|---|---|---|---|---|---|---|---|
nsv984560 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 80,447,566 | 80,487,317 |
nsv984560 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 83,062,481 | 83,102,232 |
nsv984560 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 82,252,301 | 82,292,052 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|---|
nssv3217179 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv3217179 | Remapped | Perfect | NC_000009.12:g.(80 447566_?)_(?_80487 317)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 80,447,566 | 80,487,317 |
nssv3217179 | Remapped | Perfect | NC_000009.11:g.(83 062481_?)_(?_83102 232)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 83,062,481 | 83,102,232 |
nssv3217179 | Submitted genomic | NC_000009.10:g.(82 252301_?)_(?_82292 052)dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 82,252,301 | 82,292,052 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|
nssv3217179 | NCBI36: NC_000009.10:g.(82252301_?)_(?_82292052)dup | copy number gain | Glomerulonephritis, IGA | association | Submitter |