nsv3904421
- 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:306,278
- Description:GRCh37/hg19 14q23.1(chr14:61678546-61984823)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: 753 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 753 SVs from 59 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3904421 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 61,211,828 | 61,518,105 |
| nsv3904421 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 61,678,546 | 61,984,823 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15149939 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000511690.2, VCV000442265.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15149939 | Remapped | Perfect | NC_000014.9:g.(?_6 1211828)_(61518105 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 61,211,828 | 61,518,105 |
| nssv15149939 | Submitted genomic | NC_000014.8:g.(?_6 1678546)_(61984823 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 61,678,546 | 61,984,823 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15149939 | GRCh37: NC_000014.8:g.(?_61678546)_(61984823_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000511690.2, VCV000442265.2 | 1 |