nsv6290874
- 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:10,760,142
- Description:GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)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: 24551 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 24557 SVs from 119 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290874 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 105,332,896 | 116,093,037 |
| nsv6290874 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 107,092,654 | 117,852,548 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957471 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001827678.1, VCV001340153.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957471 | Remapped | Good | NC_000010.11:g.(?_ 105332896)_(116093 037_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 105,332,896 | 116,093,037 |
| nssv17957471 | Submitted genomic | NC_000010.10:g.(?_ 107092654)_(117852 548_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 107,092,654 | 117,852,548 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957471 | GRCh37: NC_000010.10:g.(?_107092654)_(117852548_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001827678.1, VCV001340153.1 | 1 |