nsv4350671
- 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:4,052,195
- Description:GRCh37/hg19 10q11.22-11.23(chr10:46544810-51743471) 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: 11821 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 11375 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4350671 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 45,931,517 | 49,983,711 |
| nsv4350671 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 46,544,810 | 51,743,471 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605856 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767657.1, VCV000625649.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605856 | Remapped | Pass | NC_000010.11:g.(?_ 45931517)_(4998371 1_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 45,931,517 | 49,983,711 |
| nssv15605856 | Submitted genomic | NC_000010.10:g.(?_ 46544810)_(5174347 1_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,544,810 | 51,743,471 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605856 | GRCh37: NC_000010.10:g.(?_46544810)_(51743471_?)del | copy number loss | maternal | not provided | Pathogenic | ClinVar | RCV000767657.1, VCV000625649.1 |