nsv4728881
- 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:5,710,067
- Description:GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)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: 13604 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 13581 SVs from 112 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728881 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 106,105,036 | 111,815,102 |
| nsv4728881 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 106,498,814 | 112,252,906 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254432 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001259630.1, VCV000980454.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254432 | Remapped | Good | NC_000012.12:g.(?_ 106105036)_(111815 102_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 106,105,036 | 111,815,102 |
| nssv16254432 | Submitted genomic | NC_000012.11:g.(?_ 106498814)_(112252 906_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 106,498,814 | 112,252,906 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254432 | GRCh37: NC_000012.11:g.(?_106498814)_(112252906_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001259630.1, VCV000980454.1 | 1 |