nsv3900150
- 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:74,984
- Description:GRCh37/hg19 11q22.1(chr11:101397368-101472351) 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: 463 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 463 SVs from 64 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3900150 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 101,526,637 | 101,601,620 |
| nsv3900150 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 101,397,368 | 101,472,351 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15125015 | copy number gain | Multiple | Multiple | Abnormal esophagus morphology; Abnormality of esophagus morphology | Likely benign | ClinVar | RCV000416669.1, VCV000226208.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15125015 | Remapped | Perfect | NC_000011.10:g.(?_ 101526637)_(101601 620_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 101,526,637 | 101,601,620 |
| nssv15125015 | Submitted genomic | NC_000011.9:g.(?_1 01397368)_(1014723 51_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 101,397,368 | 101,472,351 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15125015 | GRCh37: NC_000011.9:g.(?_101397368)_(101472351_?)dup | copy number gain | unknown | Abnormal esophagus morphology; Abnormality of esophagus morphology | Likely benign | ClinVar | RCV000416669.1, VCV000226208.1 |