nsv3884448
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:32,606
- Description:
See descriptions for individual calls in download files - Publication(s):Kasak et al. 2015
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 434 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 434 SVs from 61 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3884448 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 89,335,416 | 89,368,021 |
| nsv3884448 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 89,384,566 | 89,417,171 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15123072 | deletion | Multiple | Multiple | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161300.1, VCV000156874.1 |
| nssv15123073 | deletion | Multiple | Multiple | Normal pregnancy | not provided | ClinVar | RCV000161301.1, VCV000156874.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15123072 | Submitted genomic | NC_000003.12:g.893 35416_89368021del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 89,335,416 | 89,368,021 |
| nssv15123073 | Submitted genomic | NC_000003.12:g.893 35416_89368021del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 89,335,416 | 89,368,021 |
| nssv15123072 | Submitted genomic | NC_000003.11:g.893 84566_89417171del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,384,566 | 89,417,171 |
| nssv15123073 | Submitted genomic | NC_000003.11:g.893 84566_89417171del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,384,566 | 89,417,171 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15123072 | GRCh37: NC_000003.11:g.89384566_89417171del, GRCh38: NC_000003.12:g.89335416_89368021del | deletion | unknown | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161300.1, VCV000156874.1 |
| nssv15123073 | GRCh37: NC_000003.11:g.89384566_89417171del, GRCh38: NC_000003.12:g.89335416_89368021del | deletion | unknown | Normal pregnancy | not provided | ClinVar | RCV000161301.1, VCV000156874.1 |