nsv6636968
- 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:18,871,157
- Description:GRCh37/hg19 8p23.3-22(chr8:158049-18936715)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: 79167 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 78815 SVs from 144 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636968 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 208,049 | 19,079,205 |
| nsv6636968 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 158,049 | 18,936,715 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329623 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002472557.1, VCV001807751.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329623 | Remapped | Good | NC_000008.11:g.(?_ 208049)_(19079205_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 208,049 | 19,079,205 |
| nssv18329623 | Submitted genomic | NC_000008.10:g.(?_ 158049)_(18936715_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 158,049 | 18,936,715 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329623 | GRCh37: NC_000008.10:g.(?_158049)_(18936715_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002472557.1, VCV001807751.1 | 1 |