nsv3885149
- 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:70,392
- Description:NG_032046.2:g.169545_239936dup 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: 233 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 234 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3885149 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 239,551,474 | 239,621,865 |
| nsv3885149 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 239,714,774 | 239,785,165 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15148297 | duplication | Multiple | Multiple | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161198.1, VCV000156772.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15148297 | Submitted genomic | NC_000001.11:g.239 551474_239621865du p | GRCh38 (hg38) | NC_000001.11 | Chr1 | 239,551,474 | 239,621,865 |
| nssv15148297 | Submitted genomic | NC_000001.10:g.239 714774_239785165du p | GRCh37 (hg19) | NC_000001.10 | Chr1 | 239,714,774 | 239,785,165 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15148297 | GRCh37: NC_000001.10:g.239714774_239785165dup, GRCh38: NC_000001.11:g.239551474_239621865dup | duplication | unknown | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161198.1, VCV000156772.1 |