nsv4682411
- 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:899,971
- Description:NC_000002.11:g.(?_241808273)_(242708241_?)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: 4437 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 4437 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4682411 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 240,868,856 | 241,768,826 |
| nsv4682411 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 241,808,273 | 242,708,241 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16213101 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001031165.1, VCV000830538.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16213101 | Remapped | Perfect | NC_000002.12:g.(?_ 240868856)_(241768 826_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 240,868,856 | 241,768,826 |
| nssv16213101 | Submitted genomic | NC_000002.11:g.(?_ 241808273)_(242708 241_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 241,808,273 | 242,708,241 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16213101 | GRCh37: NC_000002.11:g.(?_241808273)_(242708241_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001031165.1, VCV000830538.1 |