nsv5381417
- 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:684,823
- Description:NC_000003.11:g.(?_195754030)_(196438852_?)dup AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3319 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 3319 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381417 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 196,027,159 | 196,711,981 |
| nsv5381417 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 195,754,030 | 196,438,852 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866587 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001314246.1, VCV001015396.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866587 | Remapped | Perfect | NC_000003.12:g.(?_ 196027159)_(196711 981_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 196,027,159 | 196,711,981 |
| nssv16866587 | Submitted genomic | NC_000003.11:g.(?_ 195754030)_(196438 852_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,754,030 | 196,438,852 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16866587 | GRCh37: NC_000003.11:g.(?_195754030)_(196438852_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV001314246.1, VCV001015396.1 |