nsv3905138
- 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:81,443,258
- Description:GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 227010 SVs from 154 studies. See in: genome view
Overlapping variant regions from other studies: 227005 SVs from 154 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3905138 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 20,528,156 | 101,971,413 |
| nsv3905138 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 20,733,395 | 102,511,616 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15149616 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000447765.3, VCV000395145.3 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15149616 | Remapped | Good | NC_000015.10:g.(?_ 20528156)_(1019714 13_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,528,156 | 101,971,413 |
| nssv15149616 | Submitted genomic | NC_000015.9:g.(?_2 0733395)_(10251161 6_?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,733,395 | 102,511,616 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15149616 | GRCh37: NC_000015.9:g.(?_20733395)_(102511616_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000447765.3, VCV000395145.3 | 4 |