nsv4456148
- 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:965,705
- Description:GRCh37/hg19 15q25.2-25.3(chr15:84884801-85724984)x1 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: 2622 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 2563 SVs from 101 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456148 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 84,216,049 | 85,181,753 |
| nsv4456148 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 84,884,801 | 85,724,984 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15772823 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000848401.2, VCV000687710.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15772823 | Remapped | Pass | NC_000015.10:g.(?_ 84216049)_(8518175 3_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,216,049 | 85,181,753 |
| nssv15772823 | Submitted genomic | NC_000015.9:g.(?_8 4884801)_(85724984 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 84,884,801 | 85,724,984 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15772823 | GRCh37: NC_000015.9:g.(?_84884801)_(85724984_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000848401.2, VCV000687710.2 | 1 |