nsv3914833
- 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:3,585,177
- Description:GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)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: 14065 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 13422 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 3668 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914833 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 54,427 | 3,639,603 |
| nsv3914833 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 282,465 | 3,748,769 |
| nsv3914833 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 33,854 | 3,619,030 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148158 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141250.4, VCV000152732.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148158 | Submitted genomic | NC_000012.12:g.(?_ 54427)_(3639603_?) del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 54,427 | 3,639,603 |
| nssv15148158 | Submitted genomic | NC_000012.11:g.(?_ 282465)_(3748769_? )del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 282,465 | 3,748,769 |
| nssv15148158 | Submitted genomic | NC_000012.10:g.(?_ 33854)_(3619030_?) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 33,854 | 3,619,030 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148158 | GRCh37: NC_000012.11:g.(?_282465)_(3748769_?)del, GRCh38: NC_000012.12:g.(?_54427)_(3639603_?)del, NCBI36: NC_000012.10:g.(?_33854)_(3619030_?)del | copy number loss | maternal | See cases | Pathogenic | ClinVar | RCV000141250.4, VCV000152732.2 | 1 |