nsv3898291
- 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:7,646,604
- Description:GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)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: 28497 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 29742 SVs from 138 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3898291 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 19,652,445 | 27,299,048 |
| nsv3898291 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 19,794,561 | 27,768,254 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139565 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000240285.2, VCV000253659.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15139565 | Remapped | Good | NC_000014.9:g.(?_1 9652445)_(27299048 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,652,445 | 27,299,048 |
| nssv15139565 | Submitted genomic | NC_000014.8:g.(?_1 9794561)_(27768254 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 19,794,561 | 27,768,254 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139565 | GRCh37: NC_000014.8:g.(?_19794561)_(27768254_?)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV000240285.2, VCV000253659.2 | 3 |