nsv6313913
- 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:2,456,483
- Description:GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075) 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: 5300 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 5300 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313913 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 100,170,815 | 102,627,297 |
| nsv6313913 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 100,564,593 | 103,021,075 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969549 | copy number loss | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002053013.3, VCV001527727.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969549 | Remapped | Perfect | NC_000012.12:g.(?_ 100170815)_(102627 297_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 100,170,815 | 102,627,297 |
| nssv17969549 | Submitted genomic | NC_000012.11:g.(?_ 100564593)_(103021 075_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 100,564,593 | 103,021,075 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969549 | GRCh37: NC_000012.11:g.(?_100564593)_(103021075_?)del | copy number loss | germline | not specified | Uncertain significance | ClinVar | RCV002053013.3, VCV001527727.3 |