nsv3876958
- 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:21,523,534
- Description:GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1 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: 51023 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 50481 SVs from 135 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3876958 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 94,840,233 | 116,363,766 |
| nsv3876958 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 95,549,951 | 116,684,929 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15152934 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000682693.1, VCV000563204.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15152934 | Remapped | Good | NC_000006.12:g.(?_ 94840233)_(1163637 66_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 94,840,233 | 116,363,766 |
| nssv15152934 | Submitted genomic | NC_000006.11:g.(?_ 95549951)_(1166849 29_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 95,549,951 | 116,684,929 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15152934 | GRCh37: NC_000006.11:g.(?_95549951)_(116684929_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV000682693.1, VCV000563204.1 | 1 |