nsv6636830
- 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:7,945,552
- Description:GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)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: 18280 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 18280 SVs from 125 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636830 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 107,340,858 | 115,286,409 |
| nsv6636830 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 107,059,705 | 115,005,256 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330718 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002472579.1, VCV001807773.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330718 | Remapped | Perfect | NC_000003.12:g.(?_ 107340858)_(115286 409_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 107,340,858 | 115,286,409 |
| nssv18330718 | Submitted genomic | NC_000003.11:g.(?_ 107059705)_(115005 256_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 107,059,705 | 115,005,256 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330718 | GRCh37: NC_000003.11:g.(?_107059705)_(115005256_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002472579.1, VCV001807773.1 | 1 |