nsv3903155
- 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:113,429
- Description:GRCh37/hg19 13q12.3(chr13:29714684-29828112) 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: 365 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 365 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3903155 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 29,140,547 | 29,253,975 |
| nsv3903155 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 29,714,684 | 29,828,112 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15125063 | copy number loss | Multiple | Multiple | Abnormal esophagus morphology; Abnormality of esophagus morphology | Likely benign | ClinVar | RCV000416909.1, VCV000226233.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15125063 | Remapped | Perfect | NC_000013.11:g.(?_ 29140547)_(2925397 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 29,140,547 | 29,253,975 |
| nssv15125063 | Submitted genomic | NC_000013.10:g.(?_ 29714684)_(2982811 2_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 29,714,684 | 29,828,112 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15125063 | GRCh37: NC_000013.10:g.(?_29714684)_(29828112_?)del | copy number loss | paternal | Abnormal esophagus morphology; Abnormality of esophagus morphology | Likely benign | ClinVar | RCV000416909.1, VCV000226233.1 |