nsv3912182
- 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:5,662,161
- Description:NCBI36/hg18 5q31.2-32(chr5:138306445-143964773)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: 14219 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 14211 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 3253 SVs from 36 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3912182 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 138,942,857 | 144,605,017 |
| nsv3912182 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 138,278,546 | 143,984,580 |
| nsv3912182 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 138,306,445 | 143,964,773 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15143581 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000511493.2, VCV000443693.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15143581 | Remapped | Good | NC_000005.10:g.(?_ 138942857)_(144605 017_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 138,942,857 | 144,605,017 |
| nssv15143581 | Remapped | Good | NC_000005.9:g.(?_1 38278546)_(1439845 80_?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 138,278,546 | 143,984,580 |
| nssv15143581 | Submitted genomic | NC_000005.8:g.(?_1 38306445)_(1439647 73_?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 138,306,445 | 143,964,773 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15143581 | NCBI36: NC_000005.8:g.(?_138306445)_(143964773_?)dup | copy number gain | de novo | See cases | Likely pathogenic | ClinVar | RCV000511493.2, VCV000443693.2 | 3 |