nsv6314083
- 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:8,819,905
- Description:GRCh37/hg19 12p12.3-11.23(chr12:17884992-26704895) 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: 23303 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 23303 SVs from 126 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314083 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 17,732,058 | 26,551,962 |
| nsv6314083 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 17,884,992 | 26,704,895 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969510 | copy number gain | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002052974.3, VCV001527688.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969510 | Remapped | Perfect | NC_000012.12:g.(?_ 17732058)_(2655196 2_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 17,732,058 | 26,551,962 |
| nssv17969510 | Submitted genomic | NC_000012.11:g.(?_ 17884992)_(2670489 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 17,884,992 | 26,704,895 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969510 | GRCh37: NC_000012.11:g.(?_17884992)_(26704895_?)dup | copy number gain | germline | not specified | Pathogenic | ClinVar | RCV002052974.3, VCV001527688.3 |