nsv3877543
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:161,329
- Description:NM_001510.3(GRID2):c.245-219371_245-58043del AND Gestational diabetes mellitus uncontrolled
- 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: 755 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 755 SVs from 74 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3877543 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 92,865,624 | 93,026,952 |
| nsv3877543 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 93,786,775 | 93,948,103 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15122384 | deletion | Multiple | Multiple | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161351.1, VCV000156925.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15122384 | Submitted genomic | NC_000004.12:g.928 65624_93026952del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 92,865,624 | 93,026,952 |
| nssv15122384 | Submitted genomic | NC_000004.11:g.937 86775_93948103del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 93,786,775 | 93,948,103 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15122384 | GRCh37: NC_000004.11:g.93786775_93948103del, GRCh38: NC_000004.12:g.92865624_93026952del | deletion | unknown | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161351.1, VCV000156925.1 |