nsv6314007
- 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:920,927
- Description:GRCh37/hg19 11q13.4(chr11:71567724-72488649) 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: 2268 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 2269 SVs from 84 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314007 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 71,856,678 | 72,777,604 |
| nsv6314007 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 71,567,724 | 72,488,649 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969469 | copy number loss | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002052933.3, VCV001527647.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969469 | Remapped | Perfect | NC_000011.10:g.(?_ 71856678)_(7277760 4_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 71,856,678 | 72,777,604 |
| nssv17969469 | Submitted genomic | NC_000011.9:g.(?_7 1567724)_(72488649 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 71,567,724 | 72,488,649 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969469 | GRCh37: NC_000011.9:g.(?_71567724)_(72488649_?)del | copy number loss | germline | not specified | Uncertain significance | ClinVar | RCV002052933.3, VCV001527647.3 |