nsv3899090
- 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:247,876
- Description:GRCh37/hg19 12q21.31(chr12:83765377-84013252) 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: 727 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 727 SVs from 72 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3899090 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 83,371,598 | 83,619,473 |
| nsv3899090 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 83,765,377 | 84,013,252 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15125349 | copy number loss | Multiple | Multiple | Abnormal esophagus morphology; Abnormality of esophagus morphology | Likely benign | ClinVar | RCV000416684.1, VCV000226228.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15125349 | Remapped | Perfect | NC_000012.12:g.(?_ 83371598)_(8361947 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 83,371,598 | 83,619,473 |
| nssv15125349 | Submitted genomic | NC_000012.11:g.(?_ 83765377)_(8401325 2_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 83,765,377 | 84,013,252 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15125349 | GRCh37: NC_000012.11:g.(?_83765377)_(84013252_?)del | copy number loss | maternal | Abnormal esophagus morphology; Abnormality of esophagus morphology | Likely benign | ClinVar | RCV000416684.1, VCV000226228.1 |