nsv3893927
- 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:8,551,447
- Description:GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805) 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: 19706 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 19683 SVs from 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3893927 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 102,650,555 | 111,202,001 |
| nsv3893927 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 103,044,333 | 111,639,805 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969552 | copy number loss | Multiple | Multiple | not specified | Likely pathogenic | ClinVar | RCV002053016.3, VCV001527730.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969552 | Remapped | Good | NC_000012.12:g.(?_ 102650555)_(111202 001_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 102,650,555 | 111,202,001 |
| nssv17969552 | Submitted genomic | NC_000012.11:g.(?_ 103044333)_(111639 805_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 103,044,333 | 111,639,805 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969552 | GRCh37: NC_000012.11:g.(?_103044333)_(111639805_?)del | copy number loss | germline | not specified | Likely pathogenic | ClinVar | RCV002053016.3, VCV001527730.3 |