nsv6314051
- 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:527,436
- Description:GRCh37/hg19 11q13.4-13.5(chr11:74839014-75366449) 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: 1134 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 1136 SVs from 64 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314051 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 75,127,969 | 75,655,404 |
| nsv6314051 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 74,839,014 | 75,366,449 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969473 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002052937.3, VCV001527651.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969473 | Remapped | Perfect | NC_000011.10:g.(?_ 75127969)_(7565540 4_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 75,127,969 | 75,655,404 |
| nssv17969473 | Submitted genomic | NC_000011.9:g.(?_7 4839014)_(75366449 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 74,839,014 | 75,366,449 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969473 | GRCh37: NC_000011.9:g.(?_74839014)_(75366449_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002052937.3, VCV001527651.3 |