nsv7094099
- 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:457,525
- Description:NC_000011.9:g.(?_67759017)_(68216538_?)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: 1494 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1495 SVs from 84 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7094099 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 67,991,546 | 68,449,070 |
| nsv7094099 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 67,759,017 | 68,216,538 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792148 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003107647.2, VCV002424414.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792148 | Remapped | Good | NC_000011.10:g.(?_ 67991546)_(6844907 0_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 67,991,546 | 68,449,070 |
| nssv18792148 | Submitted genomic | NC_000011.9:g.(?_6 7759017)_(68216538 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 67,759,017 | 68,216,538 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792148 | GRCh37: NC_000011.9:g.(?_67759017)_(68216538_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003107647.2, VCV002424414.2 |