nsv4729716
- 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:145,815
- Description:GRCh37/hg19 15q21.3(chr15:55797842-55943656)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: 491 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 491 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729716 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 55,505,644 | 55,651,458 |
| nsv4729716 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 55,797,842 | 55,943,656 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255251 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259223.1, VCV000980047.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255251 | Remapped | Perfect | NC_000015.10:g.(?_ 55505644)_(5565145 8_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 55,505,644 | 55,651,458 |
| nssv16255251 | Submitted genomic | NC_000015.9:g.(?_5 5797842)_(55943656 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 55,797,842 | 55,943,656 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255251 | GRCh37: NC_000015.9:g.(?_55797842)_(55943656_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001259223.1, VCV000980047.1 | 1 |