nsv958876
- Organism: Homo sapiens
- Study:nstd83 (Morak et al. 2013)
- Variant Type:translocation
- Method Type:Sequencing
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Description:given coordinates are the coordinates of the fusion - ETV6 fuses here to RUNX1
- Publication(s):Morak et al. 2013
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Variant Region - no placement information
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|---|
| nssv3020553 | interchromosomal translocation | 2 | Sequencing | Sequence alignment | Childhood B Acute Lymphoblastic Leukemia | Pathogenic | Submitter | nssv3020554, nssv3020572 |
| nssv3020554 | interchromosomal translocation | 2 | Sequencing | Sequence alignment | Childhood B Acute Lymphoblastic Leukemia | Pathogenic | Submitter | nssv3020553, nssv3020572 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv3020553 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 4,682,277 | 4,682,277 | + |
| nssv3020554 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 20,690,671 | 20,690,671 | - |
| nssv3020553 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 4,791,443 | 4,791,443 | + | ||
| nssv3020554 | Submitted genomic | GRCh37 (hg19) | NC_000021.8 | Chr21 | 22,062,985 | 22,062,985 | - |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Sample ID | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv3020553 | 2 | interchromosomal translocation | Childhood B Acute Lymphoblastic Leukemia | Pathogenic | Submitter | Male | nssv3020554, nssv3020572 |
| nssv3020554 | 2 | interchromosomal translocation | Childhood B Acute Lymphoblastic Leukemia | Pathogenic | Submitter | Male | nssv3020553, nssv3020572 |