nsv6315343
- 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:1,111,768
- Description:GRCh37/hg19 3q21.2-21.3(chr3:124981934-126093700)x3 AND Chromosome 16 trisomy
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3138 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 3133 SVs from 102 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315343 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 125,263,090 | 126,374,857 |
| nsv6315343 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 124,981,934 | 126,093,700 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976756 | copy number gain | Multiple | Multiple | Chromosome 16 trisomy | Uncertain significance | ClinVar | RCV002282979.1, VCV001704652.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976756 | Remapped | Perfect | NC_000003.12:g.(12 5263090_?)_(?_1263 74857)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 125,263,090 | 126,374,857 |
| nssv17976756 | Submitted genomic | NC_000003.11:g.(12 4981934_?)_(?_1260 93700)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 124,981,934 | 126,093,700 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976756 | GRCh37: NC_000003.11:g.(124981934_?)_(?_126093700)dup | copy number gain | unknown | Chromosome 16 trisomy | Uncertain significance | ClinVar | RCV002282979.1, VCV001704652.1 | 3 |