nsv7096665
- 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:96,583
- Description:NC_000002.11:g.(?_48036277)_(48132859_?)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: 340 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 340 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7096665 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 47,809,138 | 47,905,720 |
| nsv7096665 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 48,036,277 | 48,132,859 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18791737 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003105642.2, VCV002423947.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18791737 | Remapped | Perfect | NC_000002.12:g.(?_ 47809138)_(4790572 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 47,809,138 | 47,905,720 |
| nssv18791737 | Submitted genomic | NC_000002.11:g.(?_ 48036277)_(4813285 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 48,036,277 | 48,132,859 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18791737 | GRCh37: NC_000002.11:g.(?_48036277)_(48132859_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003105642.2, VCV002423947.2 |