nsv3918080
- 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:6,046,964
- Description:GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)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: 36447 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 34112 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 13257 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 |
|---|---|---|---|---|---|---|---|
| nsv3918080 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 100,808,300 | 106,855,263 |
| nsv3918080 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 101,274,637 | 107,263,478 |
| nsv3918080 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 100,344,390 | 106,334,523 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161268 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051113.5, VCV000057413.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161268 | Submitted genomic | NC_000014.9:g.(?_1 00808300)_(1068552 63_?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 100,808,300 | 106,855,263 |
| nssv15161268 | Submitted genomic | NC_000014.8:g.(?_1 01274637)_(1072634 78_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 101,274,637 | 107,263,478 |
| nssv15161268 | Submitted genomic | NC_000014.7:g.(?_1 00344390)_(1063345 23_?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 100,344,390 | 106,334,523 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161268 | GRCh37: NC_000014.8:g.(?_101274637)_(107263478_?)del, GRCh38: NC_000014.9:g.(?_100808300)_(106855263_?)del, NCBI36: NC_000014.7:g.(?_100344390)_(106334523_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051113.5, VCV000057413.1 | 1 |