nsv3922321
- 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:3,294,621
- Description:GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1 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: 7538 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 7538 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 1877 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922321 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 112,479,482 | 115,774,102 |
| nsv3922321 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 112,198,329 | 115,492,949 |
| nsv3922321 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 113,681,019 | 116,975,639 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119836 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051545.5, VCV000057805.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119836 | Submitted genomic | NC_000003.12:g.(?_ 112479482)_(115774 102_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 112,479,482 | 115,774,102 |
| nssv15119836 | Submitted genomic | NC_000003.11:g.(?_ 112198329)_(115492 949_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 112,198,329 | 115,492,949 |
| nssv15119836 | Submitted genomic | NC_000003.10:g.(?_ 113681019)_(116975 639_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 113,681,019 | 116,975,639 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119836 | GRCh37: NC_000003.11:g.(?_112198329)_(115492949_?)del, GRCh38: NC_000003.12:g.(?_112479482)_(115774102_?)del, NCBI36: NC_000003.10:g.(?_113681019)_(116975639_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000051545.5, VCV000057805.1 | 1 |