nsv3879439
- 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:12,343,139
- Description:GRCh37/hg19 6q15-16.3(chr6:92576950-104658245) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 30747 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 30350 SVs from 126 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3879439 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 91,867,232 | 104,210,370 |
| nsv3879439 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 92,576,950 | 104,658,245 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970127 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053599.3, VCV001527267.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970127 | Remapped | Good | NC_000006.12:g.(?_ 91867232)_(1042103 70_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 91,867,232 | 104,210,370 |
| nssv17970127 | Submitted genomic | NC_000006.11:g.(?_ 92576950)_(1046582 45_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 92,576,950 | 104,658,245 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970127 | GRCh37: NC_000006.11:g.(?_92576950)_(104658245_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053599.3, VCV001527267.3 |