nsv3920295
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:53,861,817
- Description:NCBI36/hg18 10q22.3-26.3(chr10:81675342-89355409)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: 142260 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 141771 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 37317 SVs from 40 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv3920295 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 79,925,606 | 133,787,422 | 133,787,422 |
| nsv3920295 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 81,685,362 | 135,524,747 | 135,524,747 |
| nsv3920295 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 81,675,342 | 89,355,409 | 135,374,737 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15125151 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000449934.2, VCV000400018.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv15125151 | Remapped | Good | NC_000010.11:g.(?_ 79925606)_(1337874 22_133787422)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 79,925,606 | 133,787,422 | 133,787,422 |
| nssv15125151 | Remapped | Good | NC_000010.10:g.(?_ 81685362)_(1355247 47_135524747)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 81,685,362 | 135,524,747 | 135,524,747 |
| nssv15125151 | Submitted genomic | NC_000010.9:g.(?_8 1675342)_(89355409 _135374737)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 81,675,342 | 89,355,409 | 135,374,737 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15125151 | NCBI36: NC_000010.9:g.(?_81675342)_(89355409_135374737)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000449934.2, VCV000400018.2 | 1 |