nsv3921297
- 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:12,067,766
- Description:GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)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: 26213 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 26213 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 6841 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 |
|---|---|---|---|---|---|---|---|
| nsv3921297 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 132,716,978 | 144,784,743 |
| nsv3921297 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 132,435,822 | 144,503,585 |
| nsv3921297 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 133,918,512 | 145,986,275 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146788 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143634.6, VCV000155567.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146788 | Submitted genomic | NC_000003.12:g.(?_ 132716978)_(144784 743_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 132,716,978 | 144,784,743 |
| nssv15146788 | Submitted genomic | NC_000003.11:g.(?_ 132435822)_(144503 585_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 132,435,822 | 144,503,585 |
| nssv15146788 | Submitted genomic | NC_000003.10:g.(?_ 133918512)_(145986 275_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 133,918,512 | 145,986,275 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146788 | GRCh37: NC_000003.11:g.(?_132435822)_(144503585_?)del, GRCh38: NC_000003.12:g.(?_132716978)_(144784743_?)del, NCBI36: NC_000003.10:g.(?_133918512)_(145986275_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143634.6, VCV000155567.2 | 1 |