nsv4683666
- 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:406,196
- Description:NC_000021.8:g.(?_45725202)_(46131429_?)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: 2099 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 2109 SVs from 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4683666 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 44,305,319 | 44,711,514 |
| nsv4683666 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 45,725,202 | 46,131,429 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16212787 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001033805.1, VCV000833361.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16212787 | Remapped | Good | NC_000021.9:g.(?_4 4305319)_(44711514 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 44,305,319 | 44,711,514 |
| nssv16212787 | Submitted genomic | NC_000021.8:g.(?_4 5725202)_(46131429 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 45,725,202 | 46,131,429 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16212787 | GRCh37: NC_000021.8:g.(?_45725202)_(46131429_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV001033805.1, VCV000833361.1 |