nsv7094962
- 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:896,679
- Description:NC_000017.10:g.(?_26684694)_(27581367_?)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: 2382 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 2383 SVs from 80 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7094962 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 28,357,671 | 29,254,349 |
| nsv7094962 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 26,684,694 | 27,581,367 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18790484 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003116316.2, VCV002425303.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18790484 | Remapped | Good | NC_000017.11:g.(?_ 28357671)_(2925434 9_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 28,357,671 | 29,254,349 |
| nssv18790484 | Submitted genomic | NC_000017.10:g.(?_ 26684694)_(2758136 7_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 26,684,694 | 27,581,367 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18790484 | GRCh37: NC_000017.10:g.(?_26684694)_(27581367_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003116316.2, VCV002425303.2 |