nsv3878382
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:16,455
- Description:
See descriptions for individual calls in download files - Publication(s):Kasak et al. 2015, Mintz et al. 2021
- ClinVar: RCV000161862.1
- ClinVar: RCV000161863.1
- ClinVar: RCV000161864.1
- ClinVar: RCV000161865.1
- ClinVar: VCV000157436.1
- HP: 0001518
- HP: 0100602
- MONDO: 0005081
- MedGen: C0032914
- MedGen: C0232989
- MedGen: C0235991
- MedGen: C3532257
- OMIM: 189800
- OMIM: PS189800
- PubMed: 25666259
- PubMed: 33514815
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1003 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 995 SVs from 83 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nsv3878382 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 20,508,309 | 20,524,763 |
nsv3878382 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 20,691,114 | 20,707,568 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv15123185 | deletion | Multiple | Multiple | PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia | not provided | ClinVar | RCV000161864.1, VCV000157436.1 |
nssv15123186 | deletion | Multiple | Multiple | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161865.1, VCV000157436.1 |
nssv15123985 | deletion | Multiple | Multiple | Normal pregnancy | not provided | ClinVar | RCV000161862.1, VCV000157436.1 |
nssv15123986 | deletion | Multiple | Multiple | Small for gestational age; Small for gestational age | not provided | ClinVar | RCV000161863.1, VCV000157436.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nssv15123185 | Submitted genomic | NC_000019.10:g.205 08309_20524763del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 20,508,309 | 20,524,763 |
nssv15123186 | Submitted genomic | NC_000019.10:g.205 08309_20524763del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 20,508,309 | 20,524,763 |
nssv15123985 | Submitted genomic | NC_000019.10:g.205 08309_20524763del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 20,508,309 | 20,524,763 |
nssv15123986 | Submitted genomic | NC_000019.10:g.205 08309_20524763del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 20,508,309 | 20,524,763 |
nssv15123185 | Submitted genomic | NC_000019.9:g.2069 1114_20707568del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,691,114 | 20,707,568 |
nssv15123186 | Submitted genomic | NC_000019.9:g.2069 1114_20707568del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,691,114 | 20,707,568 |
nssv15123985 | Submitted genomic | NC_000019.9:g.2069 1114_20707568del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,691,114 | 20,707,568 |
nssv15123986 | Submitted genomic | NC_000019.9:g.2069 1114_20707568del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,691,114 | 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 |
---|---|---|---|---|---|---|---|
nssv15123185 | GRCh37: NC_000019.9:g.20691114_20707568del, GRCh38: NC_000019.10:g.20508309_20524763del | deletion | unknown | PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia | not provided | ClinVar | RCV000161864.1, VCV000157436.1 |
nssv15123186 | GRCh37: NC_000019.9:g.20691114_20707568del, GRCh38: NC_000019.10:g.20508309_20524763del | deletion | unknown | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161865.1, VCV000157436.1 |
nssv15123985 | GRCh37: NC_000019.9:g.20691114_20707568del, GRCh38: NC_000019.10:g.20508309_20524763del | deletion | unknown | Normal pregnancy | not provided | ClinVar | RCV000161862.1, VCV000157436.1 |
nssv15123986 | GRCh37: NC_000019.9:g.20691114_20707568del, GRCh38: NC_000019.10:g.20508309_20524763del | deletion | unknown | Small for gestational age; Small for gestational age | not provided | ClinVar | RCV000161863.1, VCV000157436.1 |