nsv7137211
- 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:122,516,911
- Description:GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) AND Distal trisomy 10q
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 324201 SVs from 147 studies. See in: genome view
Overlapping variant regions from other studies: 321528 SVs from 147 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7137211 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 11,096,729 | 133,613,639 |
| nsv7137211 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 11,138,692 | 135,427,143 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18830975 | copy number gain | Multiple | Multiple | Distal trisomy 10q | Pathogenic | ClinVar | RCV003319593.1, VCV002574696.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18830975 | Remapped | Good | NC_000010.11:g.(11 096729_?)_(?_13361 3639)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 11,096,729 | 133,613,639 |
| nssv18830975 | Submitted genomic | NC_000010.10:g.(11 138692_?)_(?_13542 7143)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 11,138,692 | 135,427,143 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18830975 | GRCh37: NC_000010.10:g.(11138692_?)_(?_135427143)dup | copy number gain | unknown | Distal trisomy 10q | Pathogenic | ClinVar | RCV003319593.1, VCV002574696.1 |