nsv3922274
- 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:32,263,010
- Description:NCBI36/hg18 10q24.32-26.3(chr10:103278071-103309288)x3 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: 89181 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 88689 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 23083 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 | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3922274 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 101,524,413 | 101,524,413 | 133,787,422 | 133,787,422 |
| nsv3922274 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 103,284,170 | 103,284,170 | 135,524,747 | 135,524,747 |
| nsv3922274 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 103,274,160 | 103,278,071 | 103,309,288 | 135,374,737 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15130706 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000454064.2, VCV000399492.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15130706 | Remapped | Good | NC_000010.11:g.(10 1524413_101524413) _(133787422_133787 422)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 101,524,413 | 101,524,413 | 133,787,422 | 133,787,422 |
| nssv15130706 | Remapped | Good | NC_000010.10:g.(10 3284170_103284170) _(135524747_135524 747)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 103,284,170 | 103,284,170 | 135,524,747 | 135,524,747 |
| nssv15130706 | Submitted genomic | NC_000010.9:g.(103 274160_103278071)_ (103309288_1353747 37)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 103,274,160 | 103,278,071 | 103,309,288 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv15130706 | NCBI36: NC_000010.9:g.(103274160_103278071)_(103309288_135374737)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000454064.2, VCV000399492.2 | 3 |