nsv6314028
- 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:171,673
- Description:GRCh37/hg19 12q13.12(chr12:49976064-50147736) 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: 353 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 353 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314028 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 49,582,281 | 49,753,953 |
| nsv6314028 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 49,976,064 | 50,147,736 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969531 | copy number loss | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002052995.3, VCV001527709.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969531 | Remapped | Perfect | NC_000012.12:g.(?_ 49582281)_(4975395 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 49,582,281 | 49,753,953 |
| nssv17969531 | Submitted genomic | NC_000012.11:g.(?_ 49976064)_(5014773 6_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 49,976,064 | 50,147,736 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969531 | GRCh37: NC_000012.11:g.(?_49976064)_(50147736_?)del | copy number loss | germline | not specified | Uncertain significance | ClinVar | RCV002052995.3, VCV001527709.3 |