nsv3882039
- 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:5,975
- Description:NC_000006.12:g.(?_10875891)_(10881865_?)del 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: 106 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3882039 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 10,875,891 | 10,881,865 |
| nsv3882039 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 10,876,124 | 10,882,098 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15151079 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000497795.2, VCV000433163.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15151079 | Submitted genomic | NC_000006.12:g.(?_ 10875891)_(1088186 5_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 10,875,891 | 10,881,865 |
| nssv15151079 | Submitted genomic | NC_000006.11:g.(?_ 10876124)_(1088209 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 10,876,124 | 10,882,098 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15151079 | GRCh37: NC_000006.11:g.(?_10876124)_(10882098_?)del, GRCh38: NC_000006.12:g.(?_10875891)_(10881865_?)del | deletion | inherited | not provided | Pathogenic | ClinVar | RCV000497795.2, VCV000433163.2 |