nsv3898270
- 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:61,060
- Description:GRCh37/hg19 16q24.1(chr16:84429584-84490643) 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: 529 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 529 SVs from 57 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3898270 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 84,395,978 | 84,457,037 |
| nsv3898270 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 84,429,584 | 84,490,643 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15125007 | copy number loss | Multiple | Multiple | Abnormal esophagus morphology; Abnormality of esophagus morphology | Benign | ClinVar | RCV000416648.1, VCV000226256.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15125007 | Remapped | Perfect | NC_000016.10:g.(?_ 84395978)_(8445703 7_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 84,395,978 | 84,457,037 |
| nssv15125007 | Submitted genomic | NC_000016.9:g.(?_8 4429584)_(84490643 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 84,429,584 | 84,490,643 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15125007 | GRCh37: NC_000016.9:g.(?_84429584)_(84490643_?)del | copy number loss | unknown | Abnormal esophagus morphology; Abnormality of esophagus morphology | Benign | ClinVar | RCV000416648.1, VCV000226256.1 |