nsv3880626
- 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:34,948,832
- Description:GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687) 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: 82848 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 82308 SVs from 136 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3880626 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 85,278,710 | 120,227,541 |
| nsv3880626 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 85,988,428 | 120,548,687 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970123 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053595.3, VCV001527263.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970123 | Remapped | Good | NC_000006.12:g.(?_ 85278710)_(1202275 41_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 85,278,710 | 120,227,541 |
| nssv17970123 | Submitted genomic | NC_000006.11:g.(?_ 85988428)_(1205486 87_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 85,988,428 | 120,548,687 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970123 | GRCh37: NC_000006.11:g.(?_85988428)_(120548687_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053595.3, VCV001527263.3 |