nsv3912545
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,526,604
- Description:GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4699 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 4726 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1285 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912545 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 64,448,836 | 65,975,439 |
| nsv3912545 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 64,741,035 | 66,267,777 |
| nsv3912545 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 62,528,088 | 64,054,831 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147059 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052344.4, VCV000058573.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147059 | Submitted genomic | NC_000015.10:g.(?_ 64448836)_(6597543 9_?)dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 64,448,836 | 65,975,439 |
| nssv15147059 | Submitted genomic | NC_000015.9:g.(?_6 4741035)_(66267777 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 64,741,035 | 66,267,777 |
| nssv15147059 | Submitted genomic | NC_000015.8:g.(?_6 2528088)_(64054831 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 62,528,088 | 64,054,831 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147059 | GRCh37: NC_000015.9:g.(?_64741035)_(66267777_?)dup, GRCh38: NC_000015.10:g.(?_64448836)_(65975439_?)dup, NCBI36: NC_000015.8:g.(?_62528088)_(64054831_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052344.4, VCV000058573.1 | 3 |