nsv5564512
- 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:11,704,691
- Description:GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 31821 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 31821 SVs from 123 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5564512 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 37,480,146 | 49,184,836 |
| nsv5564512 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 37,873,948 | 49,578,619 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17059477 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV001353185.1, VCV001048618.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17059477 | Remapped | Perfect | NC_000012.12:g.(37 480146_?)_(?_49184 836)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,480,146 | 49,184,836 |
| nssv17059477 | Submitted genomic | NC_000012.11:g.(37 873948_?)_(?_49578 619)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 37,873,948 | 49,578,619 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17059477 | GRCh37: NC_000012.11:g.(37873948_?)_(?_49578619)dup | copy number gain | de novo | See cases | Likely pathogenic | ClinVar | RCV001353185.1, VCV001048618.1 | 3 |