nsv3892639
- 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:13,056,874
- Description:GRCh37/hg19 10q26.12-26.3(chr10:122443197-135477883)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: 44029 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 43528 SVs from 136 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3892639 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 120,683,685 | 133,740,558 |
| nsv3892639 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 122,443,197 | 135,477,883 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15158455 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000737305.2, VCV000600669.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15158455 | Remapped | Good | NC_000010.11:g.(?_ 120683685)_(133740 558_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 120,683,685 | 133,740,558 |
| nssv15158455 | Submitted genomic | NC_000010.10:g.(?_ 122443197)_(135477 883_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,443,197 | 135,477,883 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15158455 | GRCh37: NC_000010.10:g.(?_122443197)_(135477883_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000737305.2, VCV000600669.2 | 1 |