nsv3887341
- 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:44,255
- 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: 1161 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1150 SVs from 89 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nsv3887341 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 20,480,509 | 20,524,763 |
nsv3887341 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 20,663,314 | 20,707,568 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv15123983 | deletion | Multiple | Multiple | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161860.1, VCV000157434.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nssv15123983 | Submitted genomic | NC_000019.10:g.204 80509_20524763del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 20,480,509 | 20,524,763 |
nssv15123983 | Submitted genomic | NC_000019.9:g.2066 3314_20707568del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,663,314 | 20,707,568 |
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 |
---|---|---|---|---|---|---|---|
nssv15123983 | GRCh37: NC_000019.9:g.20663314_20707568del, GRCh38: NC_000019.10:g.20480509_20524763del | deletion | unknown | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161860.1, VCV000157434.1 |