nsv4675805
- 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:560,214
- Description:GRCh37/hg19 15q26.1(chr15:90111672-90671886)x3 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: 1967 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1968 SVs from 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675805 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 89,568,441 | 90,128,654 |
| nsv4675805 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 90,111,672 | 90,671,886 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207237 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006720.1, VCV000815745.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207237 | Remapped | Perfect | NC_000015.10:g.(?_ 89568441)_(9012865 4_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 89,568,441 | 90,128,654 |
| nssv16207237 | Submitted genomic | NC_000015.9:g.(?_9 0111672)_(90671886 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 90,111,672 | 90,671,886 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207237 | GRCh37: NC_000015.9:g.(?_90111672)_(90671886_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001006720.1, VCV000815745.1 | 3 |