nsv3916277
- 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:25,087,858
- Description:GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)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: 75372 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 75566 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 19676 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916277 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 20,196,945 | 45,284,802 |
| nsv3916277 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 20,665,104 | 45,754,005 |
| nsv3916277 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 19,734,944 | 44,823,755 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145699 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051485.4, VCV000057745.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145699 | Submitted genomic | NC_000014.9:g.(?_2 0196945)_(45284802 _?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 20,196,945 | 45,284,802 |
| nssv15145699 | Submitted genomic | NC_000014.8:g.(?_2 0665104)_(45754005 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,665,104 | 45,754,005 |
| nssv15145699 | Submitted genomic | NC_000014.7:g.(?_1 9734944)_(44823755 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,734,944 | 44,823,755 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145699 | GRCh37: NC_000014.8:g.(?_20665104)_(45754005_?)del, GRCh38: NC_000014.9:g.(?_20196945)_(45284802_?)del, NCBI36: NC_000014.7:g.(?_19734944)_(44823755_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051485.4, VCV000057745.1 | 1 |