nsv4729799
- 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:1,489,112
- Description:GRCh37/hg19 19p13.2(chr19:8518395-10053298)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: 5821 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 5804 SVs from 109 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729799 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 8,453,511 | 9,942,622 |
| nsv4729799 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 8,518,395 | 10,053,298 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255326 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259373.1, VCV000980197.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255326 | Remapped | Good | NC_000019.10:g.(?_ 8453511)_(9942622_ ?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 8,453,511 | 9,942,622 |
| nssv16255326 | Submitted genomic | NC_000019.9:g.(?_8 518395)_(10053298_ ?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 8,518,395 | 10,053,298 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255326 | GRCh37: NC_000019.9:g.(?_8518395)_(10053298_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001259373.1, VCV000980197.1 | 3 |