nsv7096310
- 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:1,208,711
- Description:NC_000022.10:g.(?_38097373)_(39306081_?)del 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: 3766 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 3767 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7096310 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 37,701,366 | 38,910,076 |
| nsv7096310 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 38,097,373 | 39,306,081 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787378 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003122369.2, VCV002423540.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787378 | Remapped | Perfect | NC_000022.11:g.(?_ 37701366)_(3891007 6_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 37,701,366 | 38,910,076 |
| nssv18787378 | Submitted genomic | NC_000022.10:g.(?_ 38097373)_(3930608 1_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,097,373 | 39,306,081 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787378 | GRCh37: NC_000022.10:g.(?_38097373)_(39306081_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV003122369.2, VCV002423540.2 |