nsv4456266
- 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:3,324,648
- Description:GRCh37/hg19 8q24.22(chr8:131915430-135240074)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: 8148 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 8149 SVs from 110 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456266 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 130,903,184 | 134,227,831 |
| nsv4456266 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 131,915,430 | 135,240,074 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774483 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000845974.2, VCV000685266.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774483 | Remapped | Perfect | NC_000008.11:g.(?_ 130903184)_(134227 831_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 130,903,184 | 134,227,831 |
| nssv15774483 | Submitted genomic | NC_000008.10:g.(?_ 131915430)_(135240 074_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 131,915,430 | 135,240,074 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15774483 | GRCh37: NC_000008.10:g.(?_131915430)_(135240074_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000845974.2, VCV000685266.2 | 1 |