nsv3904305
- 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:40,119
- Description:GRCh37/hg19 20p13(chr20:4931970-4972088) AND Abnormal esophagus morphology
- Publication(s):Brosens et al. 2016
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 271 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 271 SVs from 41 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3904305 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 4,951,324 | 4,991,442 |
| nsv3904305 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 4,931,970 | 4,972,088 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15126099 | copy number loss | Multiple | Multiple | Abnormal esophagus morphology; Abnormality of esophagus morphology | Likely benign | ClinVar | RCV000416906.1, VCV000226273.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15126099 | Remapped | Perfect | NC_000020.11:g.(?_ 4951324)_(4991442_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 4,951,324 | 4,991,442 |
| nssv15126099 | Submitted genomic | NC_000020.10:g.(?_ 4931970)_(4972088_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 4,931,970 | 4,972,088 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15126099 | GRCh37: NC_000020.10:g.(?_4931970)_(4972088_?)del | copy number loss | unknown | Abnormal esophagus morphology; Abnormality of esophagus morphology | Likely benign | ClinVar | RCV000416906.1, VCV000226273.1 |