nsv5672586
- 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:150
- Description:NC_000015.9:g.(?_55731650)_(55731799_?)del 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: 127 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 127 SVs from 27 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5672586 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 55,439,452 | 55,439,601 |
nsv5672586 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 55,731,650 | 55,731,799 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17172458 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001380719.2, VCV001069012.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17172458 | Remapped | Perfect | NC_000015.10:g.(?_ 55439452)_(5543960 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 55,439,452 | 55,439,601 |
nssv17172458 | Submitted genomic | NC_000015.9:g.(?_5 5731650)_(55731799 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 55,731,650 | 55,731,799 |
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 |
---|---|---|---|---|---|---|---|
nssv17172458 | GRCh37: NC_000015.9:g.(?_55731650)_(55731799_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001380719.2, VCV001069012.2 |