nsv6309101
- 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:36,758
- Description:NC_000011.9:g.(?_124506847)_(124543604_?)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: 157 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 157 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6309101 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 124,636,951 | 124,673,708 |
| nsv6309101 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 124,506,847 | 124,543,604 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17974909 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001925574.1, VCV001412855.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17974909 | Remapped | Perfect | NC_000011.10:g.(?_ 124636951)_(124673 708_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 124,636,951 | 124,673,708 |
| nssv17974909 | Submitted genomic | NC_000011.9:g.(?_1 24506847)_(1245436 04_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 124,506,847 | 124,543,604 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17974909 | GRCh37: NC_000011.9:g.(?_124506847)_(124543604_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV001925574.1, VCV001412855.1 |