nsv3922917
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:7,329,788
- Description:GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)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: 20800 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 20800 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 5470 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922917 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 30,382,554 | 37,712,341 |
| nsv3922917 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 30,851,760 | 38,181,546 |
| nsv3922917 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 29,921,511 | 37,251,297 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148040 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135334.3, VCV000146008.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148040 | Submitted genomic | NC_000014.9:g.(?_3 0382554)_(37712341 _?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 30,382,554 | 37,712,341 |
| nssv15148040 | Submitted genomic | NC_000014.8:g.(?_3 0851760)_(38181546 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 30,851,760 | 38,181,546 |
| nssv15148040 | Submitted genomic | NC_000014.7:g.(?_2 9921511)_(37251297 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 29,921,511 | 37,251,297 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148040 | GRCh37: NC_000014.8:g.(?_30851760)_(38181546_?)del, GRCh38: NC_000014.9:g.(?_30382554)_(37712341_?)del, NCBI36: NC_000014.7:g.(?_29921511)_(37251297_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135334.3, VCV000146008.1 | 1 |