nsv6291789
- 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:414,534
- Description:GRCh37/hg19 12q24.13(chr12:112731318-113145852)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1197 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 1198 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291789 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 112,293,514 | 112,708,047 |
| nsv6291789 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 112,731,318 | 113,145,852 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956834 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001829126.1, VCV001341029.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956834 | Remapped | Perfect | NC_000012.12:g.(?_ 112293514)_(112708 047_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 112,293,514 | 112,708,047 |
| nssv17956834 | Submitted genomic | NC_000012.11:g.(?_ 112731318)_(113145 852_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 112,731,318 | 113,145,852 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956834 | GRCh37: NC_000012.11:g.(?_112731318)_(113145852_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001829126.1, VCV001341029.1 | 3 |