nsv4768368
- 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:611,875
- Description:GRCh37/hg19 14q23.3(chr14:66881928-67493801)x1 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: 1518 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1518 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4768368 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 66,415,210 | 67,027,084 |
| nsv4768368 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 66,881,928 | 67,493,801 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16296962 | copy number loss | Multiple | Multiple | See cases | risk factor | ClinVar | RCV001264399.1, VCV000984433.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16296962 | Remapped | Perfect | NC_000014.9:g.(664 15210_?)_(?_670270 84)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 66,415,210 | 67,027,084 |
| nssv16296962 | Submitted genomic | NC_000014.8:g.(668 81928_?)_(?_674938 01)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 66,881,928 | 67,493,801 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16296962 | GRCh37: NC_000014.8:g.(66881928_?)_(?_67493801)del | copy number loss | de novo | See cases | risk factor | ClinVar | RCV001264399.1, VCV000984433.1 | 1 |