nsv3887242
- 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:32,392
- Description:Single allele 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: 270 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 276 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3887242 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 28,309,790 | 28,342,181 |
| nsv3887242 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 28,309,788 | 28,342,179 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15123861 | deletion | Multiple | Multiple | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161568.1, VCV000157142.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15123861 | Submitted genomic | NC_000009.12:g.283 09790_28342181del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 28,309,790 | 28,342,181 |
| nssv15123861 | Submitted genomic | NC_000009.11:g.283 09788_28342179del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,309,788 | 28,342,179 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15123861 | GRCh37: NC_000009.11:g.28309788_28342179del, GRCh38: NC_000009.12:g.28309790_28342181del | deletion | unknown | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161568.1, VCV000157142.1 |