nsv6315518
- 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:1,995,478
- Description:
GRCh37/hg19 19p13.3(chr19:260911-2256387)x3 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: 14519 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 14519 SVs from 110 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315518 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 260,911 | 2,256,388 |
| nsv6315518 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 260,911 | 2,256,387 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17977108 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002285065.1, VCV001706510.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17977108 | Remapped | Perfect | NC_000019.10:g.(26 0911_?)_(?_2256388 )dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 260,911 | 2,256,388 |
| nssv17977108 | Submitted genomic | NC_000019.9:g.(260 911_?)_(?_2256387) dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 260,911 | 2,256,387 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17977108 | GRCh37: NC_000019.9:g.(260911_?)_(?_2256387)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV002285065.1, VCV001706510.1 | 3 |