nsv984440
- 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:47,230
- 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: 253 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 253 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 76 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 |
---|---|---|---|---|---|---|---|---|---|
nsv984440 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 84,500,467 | 84,547,696 |
nsv984440 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 84,727,591 | 84,774,820 |
nsv984440 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 84,581,102 | 84,628,331 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|---|
nssv3217061 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv3217061 | Remapped | Perfect | NC_000002.12:g.(84 500467_?)_(?_84547 696)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 84,500,467 | 84,547,696 |
nssv3217061 | Remapped | Perfect | NC_000002.11:g.(84 727591_?)_(?_84774 820)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 84,727,591 | 84,774,820 |
nssv3217061 | Submitted genomic | NC_000002.10:g.(84 581102_?)_(?_84628 331)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 84,581,102 | 84,628,331 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|
nssv3217061 | NCBI36: NC_000002.10:g.(84581102_?)_(?_84628331)dup | copy number gain | Glomerulonephritis, IGA | association | Submitter |