nsv3908056
- 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:49,407
- Description:GRCh37/hg19 11q22.1(chr11:99519242-99568648) 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: 337 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 337 SVs from 50 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3908056 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 99,648,511 | 99,697,917 |
nsv3908056 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 99,519,242 | 99,568,648 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv15125384 | copy number loss | Multiple | Multiple | Abnormal esophagus morphology; Abnormality of esophagus morphology | Benign | ClinVar | RCV000416819.1, VCV000226218.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15125384 | Remapped | Perfect | NC_000011.10:g.(?_ 99648511)_(9969791 7_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 99,648,511 | 99,697,917 |
nssv15125384 | Submitted genomic | NC_000011.9:g.(?_9 9519242)_(99568648 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 99,519,242 | 99,568,648 |
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 |
---|---|---|---|---|---|---|---|
nssv15125384 | GRCh37: NC_000011.9:g.(?_99519242)_(99568648_?)del | copy number loss | unknown | Abnormal esophagus morphology; Abnormality of esophagus morphology | Benign | ClinVar | RCV000416819.1, VCV000226218.1 |