nsv6315449
- 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:30,121,893
- Description:GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 109741 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 109396 SVs from 145 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315449 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 208,048 | 30,329,940 |
| nsv6315449 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 158,048 | 30,187,456 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976739 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002286343.1, VCV001707427.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976739 | Remapped | Good | NC_000008.11:g.(20 8048_?)_(?_3032994 0)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 208,048 | 30,329,940 |
| nssv17976739 | Submitted genomic | NC_000008.10:g.(15 8048_?)_(?_3018745 6)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 158,048 | 30,187,456 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17976739 | GRCh37: NC_000008.10:g.(158048_?)_(?_30187456)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV002286343.1, VCV001707427.1 | 1 |