nsv3913280
- 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:8,435,340
- Description:GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)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: 22914 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 23039 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 6466 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913280 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 68,328,980 | 76,764,319 |
| nsv3913280 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 68,378,130 | 76,813,470 |
| nsv3913280 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 68,460,820 | 76,896,160 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138078 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000140215.5, VCV000151504.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138078 | Submitted genomic | NC_000003.12:g.(?_ 68328980)_(7676431 9_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 68,328,980 | 76,764,319 |
| nssv15138078 | Submitted genomic | NC_000003.11:g.(?_ 68378130)_(7681347 0_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 68,378,130 | 76,813,470 |
| nssv15138078 | Submitted genomic | NC_000003.10:g.(?_ 68460820)_(7689616 0_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 68,460,820 | 76,896,160 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138078 | GRCh37: NC_000003.11:g.(?_68378130)_(76813470_?)dup, GRCh38: NC_000003.12:g.(?_68328980)_(76764319_?)dup, NCBI36: NC_000003.10:g.(?_68460820)_(76896160_?)dup | copy number gain | de novo | See cases | Likely pathogenic | ClinVar | RCV000140215.5, VCV000151504.2 | 3 |