nsv4457014
- 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:177,057
- Description:GRCh37/hg19 10q21.1(chr10:55468897-55645953)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: 683 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 686 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4457014 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 53,709,137 | 53,886,193 |
| nsv4457014 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 55,468,897 | 55,645,953 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15776059 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000848528.2, VCV000687837.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15776059 | Remapped | Perfect | NC_000010.11:g.(?_ 53709137)_(5388619 3_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 53,709,137 | 53,886,193 |
| nssv15776059 | Submitted genomic | NC_000010.10:g.(?_ 55468897)_(5564595 3_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 55,468,897 | 55,645,953 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15776059 | GRCh37: NC_000010.10:g.(?_55468897)_(55645953_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000848528.2, VCV000687837.2 | 1 |