nsv6315199
- 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:899,080
- Description:Single allele 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: 2842 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 2842 SVs from 86 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315199 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 55,986,511 | 56,885,590 | ||
| nsv6315199 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 56,380,295 | 57,279,374 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976704 | duplication | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002286382.1, VCV001707467.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976704 | Submitted genomic | NC_000012.12:g.559 86511_56885590dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 55,986,511 | 56,885,590 | ||
| nssv17976704 | Remapped | Perfect | NC_000012.11:g.563 80295_57279374dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 56,380,295 | 57,279,374 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976704 | GRCh38: NC_000012.12:g.55986511_56885590dup | duplication | de novo | not specified | Uncertain significance | ClinVar | RCV002286382.1, VCV001707467.1 |