nsv4675029
- 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:3,223,201
- Description:GRCh37/hg19 8q24.3(chr8:142132678-145569441)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: 14971 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 14764 SVs from 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675029 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 141,122,579 | 144,345,779 |
| nsv4675029 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 142,132,678 | 145,569,441 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208203 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006150.1, VCV000815173.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208203 | Remapped | Pass | NC_000008.11:g.(?_ 141122579)_(144345 779_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 141,122,579 | 144,345,779 |
| nssv16208203 | Submitted genomic | NC_000008.10:g.(?_ 142132678)_(145569 441_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 142,132,678 | 145,569,441 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208203 | GRCh37: NC_000008.10:g.(?_142132678)_(145569441_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006150.1, VCV000815173.1 | 1 |