nsv4675167
- 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:66,489
- Description:GRCh37/hg19 8q24.13(chr8:126178155-126244643)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: 297 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 297 SVs from 40 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675167 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 125,165,913 | 125,232,401 |
| nsv4675167 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 126,178,155 | 126,244,643 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208201 | copy number loss | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001006143.1, VCV000815166.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208201 | Remapped | Perfect | NC_000008.11:g.(?_ 125165913)_(125232 401_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 125,165,913 | 125,232,401 |
| nssv16208201 | Submitted genomic | NC_000008.10:g.(?_ 126178155)_(126244 643_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 126,178,155 | 126,244,643 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208201 | GRCh37: NC_000008.10:g.(?_126178155)_(126244643_?)del | copy number loss | germline | not provided | Likely benign | ClinVar | RCV001006143.1, VCV000815166.1 | 1 |