nsv3904242
- 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:133,219,570
- Description:GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)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: 366440 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 365223 SVs from 145 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3904242 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 45,740 | 133,265,309 |
| nsv3904242 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 1 | 133,851,895 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161620 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000258805.3, VCV000268075.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15161620 | Remapped | Good | NC_000012.12:g.(?_ 45740)_(133265309_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 45,740 | 133,265,309 |
| nssv15161620 | Submitted genomic | NC_000012.11:g.(?_ 1)_(133851895_?)du p | GRCh37 (hg19) | NC_000012.11 | Chr12 | 1 | 133,851,895 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161620 | GRCh37: NC_000012.11:g.(?_1)_(133851895_?)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV000258805.3, VCV000268075.3 | 3 |