nsv6290276
- 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:2,722,534
- Description:GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3 AND 14q11.2 microduplication
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 12400 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 12591 SVs from 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290276 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 20,457,806 | 23,180,339 |
| nsv6290276 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 20,925,965 | 23,649,548 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17955846 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV001786536.2, VCV001326312.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955846 | Remapped | Good | NC_000014.9:g.(?_2 0457806)_(23180339 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,457,806 | 23,180,339 |
| nssv17955846 | Submitted genomic | NC_000014.8:g.(?_2 0925965)_(23649548 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,925,965 | 23,649,548 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17955846 | GRCh37: NC_000014.8:g.(?_20925965)_(23649548_?)dup | copy number gain | unknown | See cases | Likely pathogenic | ClinVar | RCV001786536.2, VCV001326312.2 | 3 |