nsv5980401
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:7,026
- Description:NM_000546.6(TP53):c.-19_*21del (p.Met1fs) AND Chronic lymphatic leukemia
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 121 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 121 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5980401 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 7,669,588 | 7,676,613 |
| nsv5980401 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 7,572,906 | 7,579,931 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17517447 | deletion | Multiple | Multiple | B-cell chronic lymphocytic leukemia; Chronic lymphatic leukemia; LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL; Leukemia, Lymphocytic, Chronic, B-Cell; chronic lymphocytic leukemia | Pathogenic | ClinVar | RCV001527469.2, VCV001174011.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17517447 | Submitted genomic | NC_000017.11:g.766 9588_7676613del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 7,669,588 | 7,676,613 |
| nssv17517447 | Submitted genomic | NC_000017.10:g.757 2906_7579931del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 7,572,906 | 7,579,931 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17517447 | GRCh37: NC_000017.10:g.7572906_7579931del, GRCh38: NC_000017.11:g.7669588_7676613del | deletion | somatic | B-cell chronic lymphocytic leukemia; Chronic lymphatic leukemia; LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL; Leukemia, Lymphocytic, Chronic, B-Cell; chronic lymphocytic leukemia | Pathogenic | ClinVar | RCV001527469.2, VCV001174011.2 |