nsv4675668
- 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:4,123,332
- Description:GRCh37/hg19 8p23.3-23.2(chr8:158048-4188901)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: 24294 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 23941 SVs from 134 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675668 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 208,048 | 4,331,379 |
| nsv4675668 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 158,048 | 4,188,901 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208167 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006044.1, VCV000815067.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208167 | Remapped | Good | NC_000008.11:g.(?_ 208048)_(4331379_? )del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 208,048 | 4,331,379 |
| nssv16208167 | Submitted genomic | NC_000008.10:g.(?_ 158048)_(4188901_? )del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 158,048 | 4,188,901 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208167 | GRCh37: NC_000008.10:g.(?_158048)_(4188901_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006044.1, VCV000815067.1 | 1 |