nsv6112700
- 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:14,838,033
- 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: 36199 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 36765 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6112700 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 46,385,317 | 61,223,349 | ||
| nsv6112700 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 46,419,229 | 61,257,253 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17649855 | duplication | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001542388.2, VCV001184380.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17649855 | Submitted genomic | NC_000016.10:g.(?_ 46385317)_(6122334 9_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 46,385,317 | 61,223,349 | ||
| nssv17649855 | Remapped | Perfect | NC_000016.9:g.(?_4 6419229)_(61257253 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 46,419,229 | 61,257,253 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17649855 | GRCh38: NC_000016.10:g.(?_46385317)_(61223349_?)dup | duplication | de novo | not provided | Pathogenic | ClinVar | RCV001542388.2, VCV001184380.1 |