nsv984499
- 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:86,529
- 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: 1514 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1523 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 679 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984499 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 34,049,136 | 34,135,664 |
| nsv984499 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 33,851,603 | 33,938,131 |
| nsv984499 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 33,759,104 | 33,845,632 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217139 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217139 | Remapped | Perfect | NC_000016.10:g.(34 049136_?)_(?_34135 664)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 34,049,136 | 34,135,664 |
| nssv3217139 | Remapped | Perfect | NC_000016.9:g.(338 51603_?)_(?_339381 31)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 33,851,603 | 33,938,131 |
| nssv3217139 | Submitted genomic | NC_000016.8:g.(337 59104_?)_(?_338456 32)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 33,759,104 | 33,845,632 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217139 | NCBI36: NC_000016.8:g.(33759104_?)_(?_33845632)dup | copy number gain | Glomerulonephritis, IGA | association | Submitter |