nsv4455940
- 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:2,601,341
- Description:GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)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: 5980 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 5981 SVs from 107 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455940 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 72,650,843 | 75,252,183 |
| nsv4455940 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 72,943,184 | 75,544,524 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15773243 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000849229.2, VCV000688538.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15773243 | Remapped | Perfect | NC_000015.10:g.(?_ 72650843)_(7525218 3_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 72,650,843 | 75,252,183 |
| nssv15773243 | Submitted genomic | NC_000015.9:g.(?_7 2943184)_(75544524 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 72,943,184 | 75,544,524 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15773243 | GRCh37: NC_000015.9:g.(?_72943184)_(75544524_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000849229.2, VCV000688538.2 | 1 |