nsv4453292
- 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:2,485,567
- 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: 9038 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 9047 SVs from 126 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4453292 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 55,265,688 | 57,751,254 |
| nsv4453292 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 55,033,164 | 57,518,726 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774193 | duplication | Multiple | Multiple | not provided | not provided | ClinVar | RCV000844966.1, VCV000684481.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774193 | Remapped | Perfect | NC_000011.10:g.(?_ 55265688)_(5775125 4_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,265,688 | 57,751,254 |
| nssv15774193 | Submitted genomic | NC_000011.9:g.(?_5 5033164)_(57518726 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,033,164 | 57,518,726 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774193 | GRCh37: NC_000011.9:g.(?_55033164)_(57518726_?)dup | duplication | de novo | not provided | not provided | ClinVar | RCV000844966.1, VCV000684481.1 | 3 |