nsv3909544
- 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:477,162
- Description:GRCh37/hg19 19q12(chr19:29341513-29818674)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1225 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 1225 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3909544 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 28,850,606 | 29,327,767 |
| nsv3909544 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 29,341,513 | 29,818,674 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15156241 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000684082.1, VCV000564593.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15156241 | Remapped | Perfect | NC_000019.10:g.(?_ 28850606)_(2932776 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 28,850,606 | 29,327,767 |
| nssv15156241 | Submitted genomic | NC_000019.9:g.(?_2 9341513)_(29818674 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 29,341,513 | 29,818,674 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15156241 | GRCh37: NC_000019.9:g.(?_29341513)_(29818674_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV000684082.1, VCV000564593.1 | 1 |