nsv6314045
- 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:982,781
- Description:GRCh37/hg19 12q21.32(chr12:87592859-88575639) 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: 2366 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 2366 SVs from 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314045 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 87,199,082 | 88,181,862 |
| nsv6314045 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 87,592,859 | 88,575,639 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969542 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002053006.3, VCV001527720.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969542 | Remapped | Perfect | NC_000012.12:g.(?_ 87199082)_(8818186 2_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 87,199,082 | 88,181,862 |
| nssv17969542 | Submitted genomic | NC_000012.11:g.(?_ 87592859)_(8857563 9_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 87,592,859 | 88,575,639 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969542 | GRCh37: NC_000012.11:g.(?_87592859)_(88575639_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002053006.3, VCV001527720.3 |