nsv4729012
- 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:7,336,357
- Description:GRCh37/hg19 11q24.2-25(chr11:127602115-134938470)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 21295 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 21296 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729012 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 127,732,220 | 135,068,576 |
| nsv4729012 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 127,602,115 | 134,938,470 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254846 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001258505.2, VCV000979329.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254846 | Remapped | Perfect | NC_000011.10:g.(?_ 127732220)_(135068 576_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 127,732,220 | 135,068,576 |
| nssv16254846 | Submitted genomic | NC_000011.9:g.(?_1 27602115)_(1349384 70_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 127,602,115 | 134,938,470 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254846 | GRCh37: NC_000011.9:g.(?_127602115)_(134938470_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV001258505.2, VCV000979329.2 | 1 |