nsv3881452
- 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:36,055
- Description:GRCh37/hg19 2q21.2(chr2:133927604-133963658) 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: 206 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 206 SVs from 44 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3881452 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 133,170,032 | 133,206,086 |
| nsv3881452 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 133,927,604 | 133,963,658 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15125010 | copy number loss | Multiple | Multiple | Abnormal esophagus morphology; Abnormality of esophagus morphology | Benign | ClinVar | RCV000416655.1, VCV000226139.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15125010 | Remapped | Perfect | NC_000002.12:g.(?_ 133170032)_(133206 086_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 133,170,032 | 133,206,086 |
| nssv15125010 | Submitted genomic | NC_000002.11:g.(?_ 133927604)_(133963 658_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 133,927,604 | 133,963,658 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15125010 | GRCh37: NC_000002.11:g.(?_133927604)_(133963658_?)del | copy number loss | unknown | Abnormal esophagus morphology; Abnormality of esophagus morphology | Benign | ClinVar | RCV000416655.1, VCV000226139.1 |