nsv3889927
- 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:35,115
- 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: 485 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 485 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 |
|---|---|---|---|---|---|---|---|
| nsv3889927 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 66,318,723 | 66,353,837 |
| nsv3889927 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 68,078,481 | 68,113,595 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15123872 | deletion | Multiple | Multiple | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161598.1, VCV000157172.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15123872 | Submitted genomic | NC_000010.11:g.663 18723_66353837del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 66,318,723 | 66,353,837 |
| nssv15123872 | Submitted genomic | NC_000010.10:g.680 78481_68113595del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 68,078,481 | 68,113,595 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15123872 | GRCh37: NC_000010.10:g.68078481_68113595del, GRCh38: NC_000010.11:g.66318723_66353837del | deletion | unknown | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161598.1, VCV000157172.1 |