nsv4436396
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:complex substitution
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:7,418,850
- Description:GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant AND Spindle cell sarcoma
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 19990 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 19990 SVs from 133 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4436396 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 34,346,036 | 34,346,036 | 41,764,885 | 41,764,885 |
nsv4436396 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 34,638,237 | 34,640,169 | 42,054,561 | 42,057,083 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv15754780 | complex substitution | Multiple | Multiple | Spindle cell sarcoma | Pathogenic | ClinVar | RCV000714282.1, VCV000585332.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|
nssv15754780 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 34,346,036 | 34,346,036 | 41,764,885 | 41,764,885 |
nssv15754780 | Submitted genomic | GRCh37 (hg19) | NC_000015.9 | Chr15 | 34,638,237 | 34,640,169 | 42,054,561 | 42,057,083 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|
nssv15754780 | complex substitution | somatic | Spindle cell sarcoma | Pathogenic | ClinVar | RCV000714282.1, VCV000585332.1 |