nsv6636323
- 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:9,707,560
- Description:GRCh37/hg19 3p26.3-25.3(chr3:61892-9769457)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: 33253 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 33265 SVs from 133 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636323 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 20,214 | 9,727,773 |
| nsv6636323 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 61,892 | 9,769,457 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330726 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002472587.1, VCV001807781.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330726 | Remapped | Perfect | NC_000003.12:g.(?_ 20214)_(9727773_?) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 20,214 | 9,727,773 |
| nssv18330726 | Submitted genomic | NC_000003.11:g.(?_ 61892)_(9769457_?) del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 61,892 | 9,769,457 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330726 | GRCh37: NC_000003.11:g.(?_61892)_(9769457_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002472587.1, VCV001807781.1 | 1 |