nsv3916278
- 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:5,695,909
- Description:GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)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: 14043 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 14042 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 3470 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916278 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 50,591,011 | 56,286,919 |
| nsv3916278 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 51,057,729 | 56,753,637 |
| nsv3916278 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 50,127,479 | 55,823,390 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120311 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051519.4, VCV000057779.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120311 | Submitted genomic | NC_000014.9:g.(?_5 0591011)_(56286919 _?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 50,591,011 | 56,286,919 |
| nssv15120311 | Submitted genomic | NC_000014.8:g.(?_5 1057729)_(56753637 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 51,057,729 | 56,753,637 |
| nssv15120311 | Submitted genomic | NC_000014.7:g.(?_5 0127479)_(55823390 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 50,127,479 | 55,823,390 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120311 | GRCh37: NC_000014.8:g.(?_51057729)_(56753637_?)del, GRCh38: NC_000014.9:g.(?_50591011)_(56286919_?)del, NCBI36: NC_000014.7:g.(?_50127479)_(55823390_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000051519.4, VCV000057779.1 | 1 |