nsv7137111
- 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:519,544
- Description:GRCh37/hg19 15q11.2(chr15:22739723-23259294)x3 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: 2855 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 3122 SVs from 113 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7137111 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 22,613,802 | 23,133,345 |
| nsv7137111 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 22,739,723 | 23,259,294 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18830709 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003312314.1, VCV002570913.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18830709 | Remapped | Good | NC_000015.10:g.(?_ 22613802)_(2313334 5_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,613,802 | 23,133,345 |
| nssv18830709 | Submitted genomic | NC_000015.9:g.(?_2 2739723)_(23259294 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,739,723 | 23,259,294 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18830709 | GRCh37: NC_000015.9:g.(?_22739723)_(23259294_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV003312314.1, VCV002570913.2 | 3 |