nsv3890891
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:381,281
- Description:GRCh37/hg19 12q24.21(chr12:114995645-115376925) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1442 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1442 SVs from 73 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3890891 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 114,557,840 | 114,939,120 |
| nsv3890891 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 114,995,645 | 115,376,925 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969556 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053020.3, VCV001527734.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969556 | Remapped | Perfect | NC_000012.12:g.(?_ 114557840)_(114939 120_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 114,557,840 | 114,939,120 |
| nssv17969556 | Submitted genomic | NC_000012.11:g.(?_ 114995645)_(115376 925_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 114,995,645 | 115,376,925 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969556 | GRCh37: NC_000012.11:g.(?_114995645)_(115376925_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053020.3, VCV001527734.3 |