nsv984498
- 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:36,270
- 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: 357 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 357 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 149 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984498 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 5,430,136 | 5,466,405 |
| nsv984498 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 5,469,767 | 5,506,036 |
| nsv984498 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 5,436,293 | 5,472,562 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217164 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217164 | Remapped | Perfect | NC_000007.14:g.(54 30136_?)_(?_546640 5)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,430,136 | 5,466,405 |
| nssv3217164 | Remapped | Perfect | NC_000007.13:g.(54 69767_?)_(?_550603 6)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 5,469,767 | 5,506,036 |
| nssv3217164 | Submitted genomic | NC_000007.12:g.(54 36293_?)_(?_547256 2)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 5,436,293 | 5,472,562 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217164 | NCBI36: NC_000007.12:g.(5436293_?)_(?_5472562)del | copy number loss | Glomerulonephritis, IGA | association | Submitter |