nsv4456944
- 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:5,530,103
- Description:GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 34071 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 32220 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456944 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 101,161,579 | 106,691,681 |
| nsv4456944 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 101,627,916 | 107,147,698 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15777238 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000848417.2, VCV000687726.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15777238 | Remapped | Good | NC_000014.9:g.(?_1 01161579)_(1066916 81_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 101,161,579 | 106,691,681 |
| nssv15777238 | Submitted genomic | NC_000014.8:g.(?_1 01627916)_(1071476 98_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 101,627,916 | 107,147,698 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15777238 | GRCh37: NC_000014.8:g.(?_101627916)_(107147698_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000848417.2, VCV000687726.2 | 1 |