nsv3905183
- 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:515,584
- Description:GRCh37/hg19 19p13.11(chr19:17325373-17840956)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: 2302 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 2302 SVs from 80 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3905183 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 17,214,564 | 17,730,147 |
| nsv3905183 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 17,325,373 | 17,840,956 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15142328 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000511154.2, VCV000441789.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15142328 | Remapped | Perfect | NC_000019.10:g.(?_ 17214564)_(1773014 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 17,214,564 | 17,730,147 |
| nssv15142328 | Submitted genomic | NC_000019.9:g.(?_1 7325373)_(17840956 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 17,325,373 | 17,840,956 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15142328 | GRCh37: NC_000019.9:g.(?_17325373)_(17840956_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000511154.2, VCV000441789.2 | 1 |