nsv984510
- 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:33,171
- 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: 425 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 425 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 201 SVs from 17 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 |
---|---|---|---|---|---|---|---|---|---|
nsv984510 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 17,112,374 | 17,145,544 |
nsv984510 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 17,015,688 | 17,048,858 |
nsv984510 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 16,956,413 | 16,989,583 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|---|
nssv3217190 | copy number loss | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv3217190 | Remapped | Perfect | NC_000017.11:g.(17 112374_?)_(?_17145 544)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 17,112,374 | 17,145,544 |
nssv3217190 | Remapped | Perfect | NC_000017.10:g.(17 015688_?)_(?_17048 858)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 17,015,688 | 17,048,858 |
nssv3217190 | Submitted genomic | NC_000017.9:g.(169 56413_?)_(?_169895 83)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 16,956,413 | 16,989,583 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|
nssv3217190 | NCBI36: NC_000017.9:g.(16956413_?)_(?_16989583)del | copy number loss | Glomerulonephritis, IGA | association | Submitter |