nsv4578268
- 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:3,004,716
- Description:GRCh37/hg19 12q21.32-21.33(chr12:87296336-90301051)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: 6226 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 6226 SVs from 100 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4578268 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 86,902,559 | 89,907,274 |
| nsv4578268 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 87,296,336 | 90,301,051 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16091761 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV000856657.3, VCV000666459.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16091761 | Remapped | Perfect | NC_000012.12:g.(?_ 86902559)_(8990727 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,902,559 | 89,907,274 |
| nssv16091761 | Submitted genomic | NC_000012.11:g.(?_ 87296336)_(9030105 1_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 87,296,336 | 90,301,051 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16091761 | GRCh37: NC_000012.11:g.(?_87296336)_(90301051_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV000856657.3, VCV000666459.3 | 1 |