nsv5381067
- 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:3,740
- Description:NC_000001.10:g.(?_226125121)_(226128860_?)dup AND Left-right axis malformations
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 116 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381067 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 225,937,421 | 225,941,160 |
| nsv5381067 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 226,125,121 | 226,128,860 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866774 | duplication | Multiple | Multiple | Left-right axis malformations | Uncertain significance | ClinVar | RCV001319581.1, VCV001020059.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866774 | Remapped | Perfect | NC_000001.11:g.(?_ 225937421)_(225941 160_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,937,421 | 225,941,160 |
| nssv16866774 | Submitted genomic | NC_000001.10:g.(?_ 226125121)_(226128 860_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 226,125,121 | 226,128,860 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16866774 | GRCh37: NC_000001.10:g.(?_226125121)_(226128860_?)dup | duplication | germline | Left-right axis malformations | Uncertain significance | ClinVar | RCV001319581.1, VCV001020059.1 |