nsv3887051
- 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:19,875
- 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: 104 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3887051 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 35,902,179 | 35,922,053 |
| nsv3887051 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 36,367,780 | 36,387,654 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15146824 | deletion | Multiple | Multiple | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161159.1, VCV000156733.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15146824 | Submitted genomic | NC_000001.11:g.359 02179_35922053del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 35,902,179 | 35,922,053 |
| nssv15146824 | Submitted genomic | NC_000001.10:g.363 67780_36387654del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 36,367,780 | 36,387,654 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15146824 | GRCh37: NC_000001.10:g.36367780_36387654del, GRCh38: NC_000001.11:g.35902179_35922053del | deletion | unknown | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161159.1, VCV000156733.1 |