nsv4455359
- 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:7,709,265
- Description:GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)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: 19868 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 19869 SVs from 116 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455359 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 48,738,935 | 56,448,199 |
| nsv4455359 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 49,031,132 | 56,740,397 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15773263 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000849275.2, VCV000688584.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15773263 | Remapped | Perfect | NC_000015.10:g.(?_ 48738935)_(5644819 9_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 48,738,935 | 56,448,199 |
| nssv15773263 | Submitted genomic | NC_000015.9:g.(?_4 9031132)_(56740397 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 49,031,132 | 56,740,397 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15773263 | GRCh37: NC_000015.9:g.(?_49031132)_(56740397_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000849275.2, VCV000688584.2 | 3 |