nsv4675468
- 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:228,314
- Description:GRCh37/hg19 15q22.2(chr15:62398532-62626845)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: 683 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 683 SVs from 69 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675468 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 62,106,333 | 62,334,646 |
| nsv4675468 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 62,398,532 | 62,626,845 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208424 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006702.1, VCV000815727.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208424 | Remapped | Perfect | NC_000015.10:g.(?_ 62106333)_(6233464 6_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 62,106,333 | 62,334,646 |
| nssv16208424 | Submitted genomic | NC_000015.9:g.(?_6 2398532)_(62626845 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 62,398,532 | 62,626,845 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208424 | GRCh37: NC_000015.9:g.(?_62398532)_(62626845_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001006702.1, VCV000815727.1 | 1 |