nsv4455511
- 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:11,145,072
- Description:GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)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: 29073 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 29084 SVs from 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455511 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 123,108,532 | 134,253,603 |
| nsv4455511 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 124,120,772 | 135,265,846 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15776010 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000848438.2, VCV000687747.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15776010 | Remapped | Perfect | NC_000008.11:g.(?_ 123108532)_(134253 603_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 123,108,532 | 134,253,603 |
| nssv15776010 | Submitted genomic | NC_000008.10:g.(?_ 124120772)_(135265 846_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 124,120,772 | 135,265,846 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15776010 | GRCh37: NC_000008.10:g.(?_124120772)_(135265846_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000848438.2, VCV000687747.2 | 1 |