nsv3872413
- 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:61,691
- 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: 289 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 289 SVs from 63 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3872413 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 72,689,714 | 72,751,404 |
| nsv3872413 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 72,723,613 | 72,785,303 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15123950 | deletion | Multiple | Multiple | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161796.1, VCV000157370.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15123950 | Submitted genomic | NC_000016.10:g.726 89714_72751404del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 72,689,714 | 72,751,404 |
| nssv15123950 | Submitted genomic | NC_000016.9:g.7272 3613_72785303del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 72,723,613 | 72,785,303 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15123950 | GRCh37: NC_000016.9:g.72723613_72785303del, GRCh38: NC_000016.10:g.72689714_72751404del | deletion | unknown | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161796.1, VCV000157370.1 |