nsv3902723
- 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:6,682,248
- Description:GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)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: 38546 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 36212 SVs from 133 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3902723 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 100,194,982 | 106,877,229 |
| nsv3902723 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 100,661,319 | 107,285,437 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15142554 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000511171.2, VCV000443644.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15142554 | Remapped | Good | NC_000014.9:g.(?_1 00194982)_(1068772 29_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 100,194,982 | 106,877,229 |
| nssv15142554 | Submitted genomic | NC_000014.8:g.(?_1 00661319)_(1072854 37_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 100,661,319 | 107,285,437 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15142554 | GRCh37: NC_000014.8:g.(?_100661319)_(107285437_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000511171.2, VCV000443644.2 | 1 |