nsv7094186
- 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:3,246,659
- Description:
NC_000011.9:g.(?_721044)_(3988932_?)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: 13622 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 13244 SVs from 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7094186 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 721,044 | 3,967,702 |
| nsv7094186 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 721,044 | 3,988,932 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18789791 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003113442.2, VCV002425075.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18789791 | Remapped | Good | NC_000011.10:g.(?_ 721044)_(3967702_? )dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 721,044 | 3,967,702 |
| nssv18789791 | Submitted genomic | NC_000011.9:g.(?_7 21044)_(3988932_?) dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 721,044 | 3,988,932 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18789791 | GRCh37: NC_000011.9:g.(?_721044)_(3988932_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003113442.2, VCV002425075.3 |