nsv3906446
- 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:2,508,543
- Description:GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382) 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: 6804 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 6804 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3906446 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 118,049,037 | 120,557,579 |
| nsv3906446 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 118,486,842 | 120,995,382 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969563 | copy number gain | Multiple | Multiple | not specified | Likely pathogenic | ClinVar | RCV002053027.3, VCV001527741.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969563 | Remapped | Perfect | NC_000012.12:g.(?_ 118049037)_(120557 579_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 118,049,037 | 120,557,579 |
| nssv17969563 | Submitted genomic | NC_000012.11:g.(?_ 118486842)_(120995 382_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 118,486,842 | 120,995,382 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969563 | GRCh37: NC_000012.11:g.(?_118486842)_(120995382_?)dup | copy number gain | germline | not specified | Likely pathogenic | ClinVar | RCV002053027.3, VCV001527741.3 |