nsv5980451
- 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:21,174,039
- Description:GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3 AND 14q22.2q24.3 duplication
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 53568 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 53569 SVs from 136 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5980451 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 54,187,283 | 75,361,321 |
| nsv5980451 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 54,654,001 | 75,828,024 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17517489 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV001506967.2, VCV001162192.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17517489 | Remapped | Perfect | NC_000014.9:g.(?_5 4187283)_(75361321 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 54,187,283 | 75,361,321 |
| nssv17517489 | Submitted genomic | NC_000014.8:g.(?_5 4654001)_(75828024 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 54,654,001 | 75,828,024 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17517489 | GRCh37: NC_000014.8:g.(?_54654001)_(75828024_?)dup | copy number gain | de novo | See cases | Likely pathogenic | ClinVar | RCV001506967.2, VCV001162192.2 | 3 |