nsv3878442
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:22,398
- Description:
See descriptions for individual calls in download files - 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: 1026 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1026 SVs from 78 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3878442 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 40,850,846 | 40,873,243 |
| nsv3878442 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 41,356,751 | 41,379,148 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15123188 | deletion | Multiple | Multiple | Large for gestational age; Large for gestational age | not provided | ClinVar | RCV000161870.1, VCV000157443.1 |
| nssv15123987 | deletion | Multiple | Multiple | PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia | not provided | ClinVar | RCV000161869.1, VCV000157443.1 |
| nssv15123988 | deletion | Multiple | Multiple | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161871.1, VCV000157443.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15123188 | Submitted genomic | NC_000019.10:g.408 50846_40873243del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 40,850,846 | 40,873,243 |
| nssv15123987 | Submitted genomic | NC_000019.10:g.408 50846_40873243del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 40,850,846 | 40,873,243 |
| nssv15123988 | Submitted genomic | NC_000019.10:g.408 50846_40873243del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 40,850,846 | 40,873,243 |
| nssv15123188 | Submitted genomic | NC_000019.9:g.4135 6751_41379148del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 41,356,751 | 41,379,148 |
| nssv15123987 | Submitted genomic | NC_000019.9:g.4135 6751_41379148del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 41,356,751 | 41,379,148 |
| nssv15123988 | Submitted genomic | NC_000019.9:g.4135 6751_41379148del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 41,356,751 | 41,379,148 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15123188 | GRCh37: NC_000019.9:g.41356751_41379148del, GRCh38: NC_000019.10:g.40850846_40873243del | deletion | unknown | Large for gestational age; Large for gestational age | not provided | ClinVar | RCV000161870.1, VCV000157443.1 |
| nssv15123987 | GRCh37: NC_000019.9:g.41356751_41379148del, GRCh38: NC_000019.10:g.40850846_40873243del | deletion | unknown | PREECLAMPSIA/ECLAMPSIA 1; PEE1; Preeclampsia; Preeclampsia; Preeclampsia/eclampsia | not provided | ClinVar | RCV000161869.1, VCV000157443.1 |
| nssv15123988 | GRCh37: NC_000019.9:g.41356751_41379148del, GRCh38: NC_000019.10:g.40850846_40873243del | deletion | unknown | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161871.1, VCV000157443.1 |