nsv3896610
- 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:70,632
- Description:GRCh37/hg19 9p23(chr9:9919638-9990269) 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: 664 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 668 SVs from 79 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3896610 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 9,919,638 | 9,990,269 |
| nsv3896610 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 9,919,638 | 9,990,269 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15147776 | copy number loss | Multiple | Multiple | Abnormal esophagus morphology; Abnormality of esophagus morphology | Likely benign | ClinVar | RCV000416744.1, VCV000226197.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15147776 | Remapped | Perfect | NC_000009.12:g.(?_ 9919638)_(9990269_ ?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 9,919,638 | 9,990,269 |
| nssv15147776 | Submitted genomic | NC_000009.11:g.(?_ 9919638)_(9990269_ ?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 9,919,638 | 9,990,269 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15147776 | GRCh37: NC_000009.11:g.(?_9919638)_(9990269_?)del | copy number loss | unknown | Abnormal esophagus morphology; Abnormality of esophagus morphology | Likely benign | ClinVar | RCV000416744.1, VCV000226197.1 |