nsv6637057
- 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:1,826,898
- Description:GRCh37/hg19 6p23-22.3(chr6:13891547-15718444)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: 4775 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 4775 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637057 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 13,891,316 | 15,718,213 |
| nsv6637057 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 13,891,547 | 15,718,444 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330226 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV002473958.1, VCV001808641.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330226 | Remapped | Perfect | NC_000006.12:g.(?_ 13891316)_(1571821 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 13,891,316 | 15,718,213 |
| nssv18330226 | Submitted genomic | NC_000006.11:g.(?_ 13891547)_(1571844 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 13,891,547 | 15,718,444 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330226 | GRCh37: NC_000006.11:g.(?_13891547)_(15718444_?)del | copy number loss | unknown | not provided | Likely pathogenic | ClinVar | RCV002473958.1, VCV001808641.1 | 1 |