nsv6315440
- 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:47,452,651
- Description:GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 AND FETAL DEMISE
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 143441 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 143352 SVs from 142 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315440 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 114,902 | 47,567,552 |
| nsv6315440 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 114,784 | 47,569,569 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976755 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002282978.1, VCV001704651.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976755 | Remapped | Good | NC_000004.12:g.(11 4902_?)_(?_4756755 2)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 114,902 | 47,567,552 |
| nssv17976755 | Submitted genomic | NC_000004.11:g.(11 4784_?)_(?_4756956 9)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 114,784 | 47,569,569 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976755 | GRCh37: NC_000004.11:g.(114784_?)_(?_47569569)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV002282978.1, VCV001704651.1 | 3 |