nsv5673393
- 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:8,152
- Description:Single allele AND Preeclampsia
- 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: 207 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 207 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 |
|---|---|---|---|---|---|---|---|
| nsv5673393 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 111,383,529 | 111,391,680 |
| nsv5673393 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 111,926,151 | 111,934,302 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15123027 | deletion | Multiple | Multiple | PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia | not provided | ClinVar | RCV000161177.1, VCV000156751.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15123027 | Submitted genomic | NC_000001.11:g.111 383529_111391680de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 111,383,529 | 111,391,680 |
| nssv15123027 | Submitted genomic | NC_000001.10:g.111 926151_111934302de l | GRCh37 (hg19) | NC_000001.10 | Chr1 | 111,926,151 | 111,934,302 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15123027 | GRCh37: NC_000001.10:g.111926151_111934302del, GRCh38: NC_000001.11:g.111383529_111391680del | deletion | unknown | PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia | not provided | ClinVar | RCV000161177.1, VCV000156751.1 |