nsv3917997
- 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:5,189,662
- Description:GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)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: 34215 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 31880 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 12619 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 |
|---|---|---|---|---|---|---|---|
| nsv3917997 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 101,665,602 | 106,855,263 |
| nsv3917997 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 102,131,939 | 107,263,478 |
| nsv3917997 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 101,201,692 | 106,334,523 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161102 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142453.6, VCV000154386.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161102 | Submitted genomic | NC_000014.9:g.(?_1 01665602)_(1068552 63_?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 101,665,602 | 106,855,263 |
| nssv15161102 | Submitted genomic | NC_000014.8:g.(?_1 02131939)_(1072634 78_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 102,131,939 | 107,263,478 |
| nssv15161102 | Submitted genomic | NC_000014.7:g.(?_1 01201692)_(1063345 23_?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 101,201,692 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161102 | GRCh37: NC_000014.8:g.(?_102131939)_(107263478_?)del, GRCh38: NC_000014.9:g.(?_101665602)_(106855263_?)del, NCBI36: NC_000014.7:g.(?_101201692)_(106334523_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000142453.6, VCV000154386.2 | 1 |