nsv6636564
- 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:3,561,673
- Description:GRCh37/hg19 6p25.3-25.2(chr6:156975-3718881)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: 13899 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 13890 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636564 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 156,975 | 3,718,647 |
| nsv6636564 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 156,975 | 3,718,881 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330309 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002474569.1, VCV001808724.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330309 | Remapped | Good | NC_000006.12:g.(?_ 156975)_(3718647_? )del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 156,975 | 3,718,647 |
| nssv18330309 | Submitted genomic | NC_000006.11:g.(?_ 156975)_(3718881_? )del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 156,975 | 3,718,881 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330309 | GRCh37: NC_000006.11:g.(?_156975)_(3718881_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002474569.1, VCV001808724.1 | 1 |