nsv7093395
- 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:5,742,646
- Description:GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 13234 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 13234 SVs from 107 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7093395 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 64,215,678 | 69,958,323 |
| nsv7093395 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 64,609,458 | 70,352,103 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18786358 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002511748.3, VCV001879249.4 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18786358 | Remapped | Perfect | NC_000012.12:g.(?_ 64215678)_(6995832 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 64,215,678 | 69,958,323 |
| nssv18786358 | Submitted genomic | NC_000012.11:g.(?_ 64609458)_(7035210 3_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 64,609,458 | 70,352,103 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18786358 | GRCh37: NC_000012.11:g.(?_64609458)_(70352103_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV002511748.3, VCV001879249.4 | 1 |