nsv6314874
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,264,651
- Description:Single allele 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: 3270 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 3270 SVs from 95 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314874 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 6,154,935 | 7,419,585 | ||
| nsv6314874 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 6,295,067 | 7,559,716 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976226 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002227746.1, VCV001679722.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976226 | Submitted genomic | NC_000002.12:g.615 4935_7419585dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 6,154,935 | 7,419,585 | ||
| nssv17976226 | Remapped | Perfect | NC_000002.11:g.629 5067_7559716dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 6,295,067 | 7,559,716 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976226 | GRCh38: NC_000002.12:g.6154935_7419585dup | duplication | inherited | not provided | Uncertain significance | ClinVar | RCV002227746.1, VCV001679722.1 |