nsv3912778
- 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:5,853,501
- Description:GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)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: 12941 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 12944 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 3330 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 |
|---|---|---|---|---|---|---|---|
| nsv3912778 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 49,461,000 | 55,314,500 |
| nsv3912778 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 49,498,433 | 55,348,528 |
| nsv3912778 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 49,473,437 | 55,323,568 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119824 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051511.4, VCV000057771.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119824 | Submitted genomic | NC_000003.12:g.(?_ 49461000)_(5531450 0_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 49,461,000 | 55,314,500 |
| nssv15119824 | Submitted genomic | NC_000003.11:g.(?_ 49498433)_(5534852 8_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 49,498,433 | 55,348,528 |
| nssv15119824 | Submitted genomic | NC_000003.10:g.(?_ 49473437)_(5532356 8_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 49,473,437 | 55,323,568 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119824 | GRCh37: NC_000003.11:g.(?_49498433)_(55348528_?)del, GRCh38: NC_000003.12:g.(?_49461000)_(55314500_?)del, NCBI36: NC_000003.10:g.(?_49473437)_(55323568_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051511.4, VCV000057771.1 | 1 |