nsv6314025
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:4,705,105
- Description:GRCh37/hg19 14q21.2-21.3(chr14:45827312-50529931) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 13128 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 13109 SVs from 113 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314025 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 45,358,109 | 50,063,213 |
| nsv6314025 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 45,827,312 | 50,529,931 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969634 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002053098.3, VCV001527812.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969634 | Remapped | Good | NC_000014.9:g.(?_4 5358109)_(50063213 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 45,358,109 | 50,063,213 |
| nssv17969634 | Submitted genomic | NC_000014.8:g.(?_4 5827312)_(50529931 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 45,827,312 | 50,529,931 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969634 | GRCh37: NC_000014.8:g.(?_45827312)_(50529931_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002053098.3, VCV001527812.3 |