nsv3924579
- 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:3,202,205
- Description:GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4 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: 8910 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 8914 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 2114 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924579 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 8,038,727 | 11,240,931 |
| nsv3924579 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 8,080,414 | 11,282,617 |
| nsv3924579 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 8,055,414 | 11,257,617 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147303 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000135641.7, VCV000146336.2 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147303 | Submitted genomic | NC_000003.12:g.(?_ 8038727)_(11240931 _?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 8,038,727 | 11,240,931 |
| nssv15147303 | Submitted genomic | NC_000003.11:g.(?_ 8080414)_(11282617 _?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 8,080,414 | 11,282,617 |
| nssv15147303 | Submitted genomic | NC_000003.10:g.(?_ 8055414)_(11257617 _?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 8,055,414 | 11,257,617 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147303 | GRCh37: NC_000003.11:g.(?_8080414)_(11282617_?)dup, GRCh38: NC_000003.12:g.(?_8038727)_(11240931_?)dup, NCBI36: NC_000003.10:g.(?_8055414)_(11257617_?)dup | copy number gain | de novo | See cases | Likely pathogenic | ClinVar | RCV000135641.7, VCV000146336.2 | 4 |