nsv5381775
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,476,099
- Description:GRCh37/hg19 4p16.3(chr4:388344-3872380) AND multiple conditions
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 16481 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 16422 SVs from 118 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381775 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 394,555 | 3,870,653 |
| nsv5381775 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 388,344 | 3,872,380 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867405 | copy number loss | Multiple | Multiple | Fetal growth restriction; Generalized hypotonia; Generalized hypotonia; Intrauterine growth retardation; Renal hypoplasia; Renal hypoplasia (disease) | Pathogenic | ClinVar | RCV001352672.1, VCV001047903.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867405 | Remapped | Good | NC_000004.12:g.(?_ 394555)_(3870653_? )del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 394,555 | 3,870,653 |
| nssv16867405 | Submitted genomic | NC_000004.11:g.(?_ 388344)_(3872380_? )del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 388,344 | 3,872,380 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867405 | GRCh37: NC_000004.11:g.(?_388344)_(3872380_?)del | copy number loss | de novo | Fetal growth restriction; Generalized hypotonia; Generalized hypotonia; Intrauterine growth retardation; Renal hypoplasia; Renal hypoplasia (disease) | Pathogenic | ClinVar | RCV001352672.1, VCV001047903.1 |