nsv6291759
- 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:645,930
- Description:GRCh37/hg19 19q13.41(chr19:51769834-52415762)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: 2351 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 2351 SVs from 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291759 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 51,266,580 | 51,912,509 |
| nsv6291759 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 51,769,834 | 52,415,762 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956714 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001827892.1, VCV001340619.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956714 | Remapped | Perfect | NC_000019.10:g.(?_ 51266580)_(5191250 9_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 51,266,580 | 51,912,509 |
| nssv17956714 | Submitted genomic | NC_000019.9:g.(?_5 1769834)_(52415762 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 51,769,834 | 52,415,762 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956714 | GRCh37: NC_000019.9:g.(?_51769834)_(52415762_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001827892.1, VCV001340619.1 | 3 |