nsv5564510
- 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:95,863,589
- Description:GRCh37/hg19 13q11-34(chr13:19053605-115108528)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: 265272 SVs from 151 studies. See in: genome view
Overlapping variant regions from other studies: 265204 SVs from 151 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5564510 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 18,479,465 | 114,343,053 |
| nsv5564510 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 19,053,605 | 115,108,528 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17059476 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001353184.1, VCV001048617.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17059476 | Remapped | Good | NC_000013.11:g.(18 479465_?)_(?_11434 3053)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 18,479,465 | 114,343,053 |
| nssv17059476 | Submitted genomic | NC_000013.10:g.(19 053605_?)_(?_11510 8528)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 19,053,605 | 115,108,528 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17059476 | GRCh37: NC_000013.10:g.(19053605_?)_(?_115108528)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV001353184.1, VCV001048617.1 | 3 |