nsv6634443
- 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:4,136,992
- Description:GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 12009 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 11386 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 | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv6634443 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 45,792,373 | 49,929,364 | - |
| nsv6634443 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 46,287,821 | - | 51,627,470 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18326311 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002293401.1, VCV001711870.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv18326311 | Remapped | Pass | NC_000010.11:g.(45 792373_?)_(4992936 4_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 45,792,373 | 49,929,364 | - |
| nssv18326311 | Submitted genomic | NC_000010.10:g.(46 287821_?)_(?_51627 470)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,287,821 | - | 51,627,470 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18326311 | GRCh37: NC_000010.10:g.(46287821_?)_(?_51627470)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV002293401.1, VCV001711870.1 | 1 |