nsv4675221
- 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:778,016
- Description:GRCh37/hg19 15q15.2-15.3(chr15:43420601-44198616)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: 2246 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 2246 SVs from 105 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675221 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 43,128,403 | 43,906,418 |
| nsv4675221 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 43,420,601 | 44,198,616 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207225 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006684.1, VCV000815709.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207225 | Remapped | Perfect | NC_000015.10:g.(?_ 43128403)_(4390641 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 43,128,403 | 43,906,418 |
| nssv16207225 | Submitted genomic | NC_000015.9:g.(?_4 3420601)_(44198616 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 43,420,601 | 44,198,616 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207225 | GRCh37: NC_000015.9:g.(?_43420601)_(44198616_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001006684.1, VCV000815709.1 | 3 |