nsv3876295
- 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:41,657
- Description:NM_175566.2(CNTN5):c.55+98126_55+139782del 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: 315 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 315 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3876295 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 99,654,395 | 99,696,051 |
| nsv3876295 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 99,525,126 | 99,566,782 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15123149 | deletion | Multiple | Multiple | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161648.1, VCV000157222.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15123149 | Submitted genomic | NC_000011.10:g.996 54395_99696051del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 99,654,395 | 99,696,051 |
| nssv15123149 | Submitted genomic | NC_000011.9:g.9952 5126_99566782del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 99,525,126 | 99,566,782 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15123149 | GRCh37: NC_000011.9:g.99525126_99566782del, GRCh38: NC_000011.10:g.99654395_99696051del | deletion | unknown | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161648.1, VCV000157222.1 |