nsv4674941
- 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:37,309,990
- Description:GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 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: 107796 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 106738 SVs from 140 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674941 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 165,510 | 37,475,499 |
| nsv4674941 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 274,676 | 37,869,301 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208328 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006470.1, VCV000815493.1 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208328 | Remapped | Good | NC_000012.12:g.(?_ 165510)_(37475499_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 165,510 | 37,475,499 |
| nssv16208328 | Submitted genomic | NC_000012.11:g.(?_ 274676)_(37869301_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 274,676 | 37,869,301 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208328 | GRCh37: NC_000012.11:g.(?_274676)_(37869301_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001006470.1, VCV000815493.1 | 4 |