nsv4728990
- 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:89,524
- Description:GRCh37/hg19 14q32.2(chr14:101201380-101290903)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: 224 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 224 SVs from 46 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728990 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 100,735,043 | 100,824,566 |
| nsv4728990 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 101,201,380 | 101,290,903 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254748 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001263168.1, VCV000983280.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254748 | Remapped | Perfect | NC_000014.9:g.(100 735043_?)_(?_10082 4566)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 100,735,043 | 100,824,566 |
| nssv16254748 | Submitted genomic | NC_000014.8:g.(101 201380_?)_(?_10129 0903)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 101,201,380 | 101,290,903 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254748 | GRCh37: NC_000014.8:g.(101201380_?)_(?_101290903)del | copy number loss | maternal | See cases | Pathogenic | ClinVar | RCV001263168.1, VCV000983280.1 | 1 |