nsv3900646
- 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:155,330
- Description:GRCh37/hg19 13q31.1(chr13:85909019-86064348) 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: 708 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 708 SVs from 69 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3900646 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 85,334,884 | 85,490,213 |
| nsv3900646 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 85,909,019 | 86,064,348 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15125032 | copy number loss | Multiple | Multiple | Abnormal esophagus morphology; Abnormality of esophagus morphology | Likely benign | ClinVar | RCV000416769.1, VCV000226237.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15125032 | Remapped | Perfect | NC_000013.11:g.(?_ 85334884)_(8549021 3_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 85,334,884 | 85,490,213 |
| nssv15125032 | Submitted genomic | NC_000013.10:g.(?_ 85909019)_(8606434 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 85,909,019 | 86,064,348 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15125032 | GRCh37: NC_000013.10:g.(?_85909019)_(86064348_?)del | copy number loss | unknown | Abnormal esophagus morphology; Abnormality of esophagus morphology | Likely benign | ClinVar | RCV000416769.1, VCV000226237.1 |