nsv3917966
- 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:12,225,491
- Description:GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)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: 29650 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 29652 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 7481 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917966 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 67,196,567 | 79,422,057 |
| nsv3917966 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 68,956,325 | 81,181,813 |
| nsv3917966 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 68,626,331 | 80,851,819 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132882 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135438.4, VCV000146115.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132882 | Submitted genomic | NC_000010.11:g.(?_ 67196567)_(7942205 7_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 67,196,567 | 79,422,057 |
| nssv15132882 | Submitted genomic | NC_000010.10:g.(?_ 68956325)_(8118181 3_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 68,956,325 | 81,181,813 |
| nssv15132882 | Submitted genomic | NC_000010.9:g.(?_6 8626331)_(80851819 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 68,626,331 | 80,851,819 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132882 | GRCh37: NC_000010.10:g.(?_68956325)_(81181813_?)dup, GRCh38: NC_000010.11:g.(?_67196567)_(79422057_?)dup, NCBI36: NC_000010.9:g.(?_68626331)_(80851819_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000135438.4, VCV000146115.2 | 3 |