nsv4456793
- 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:11,591,898
- Description:GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)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: 30014 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 30014 SVs from 134 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456793 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 15,988,495 | 27,580,392 |
| nsv4456793 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 16,141,429 | 27,733,325 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15773534 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000849815.2, VCV000689124.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15773534 | Remapped | Perfect | NC_000012.12:g.(?_ 15988495)_(2758039 2_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 15,988,495 | 27,580,392 |
| nssv15773534 | Submitted genomic | NC_000012.11:g.(?_ 16141429)_(2773332 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 16,141,429 | 27,733,325 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15773534 | GRCh37: NC_000012.11:g.(?_16141429)_(27733325_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000849815.2, VCV000689124.2 | 1 |