nsv4730038
- 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:576,217
- Description:GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3 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: 2609 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 2609 SVs from 91 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730038 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 48,351,062 | 48,927,278 |
| nsv4730038 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 48,854,319 | 49,430,535 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254554 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001259943.1, VCV000980767.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254554 | Remapped | Perfect | NC_000019.10:g.(?_ 48351062)_(4892727 8_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 48,351,062 | 48,927,278 |
| nssv16254554 | Submitted genomic | NC_000019.9:g.(?_4 8854319)_(49430535 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 48,854,319 | 49,430,535 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254554 | GRCh37: NC_000019.9:g.(?_48854319)_(49430535_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV001259943.1, VCV000980767.1 | 3 |