nsv4729545
- 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:884,977
- Description:GRCh37/hg19 11p15.5(chr11:1436158-2321134)x3 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: 4300 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 4301 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729545 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 1,414,928 | 2,299,904 |
| nsv4729545 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 1,436,158 | 2,321,134 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255435 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001259591.1, VCV000980415.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255435 | Remapped | Perfect | NC_000011.10:g.(?_ 1414928)_(2299904_ ?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,414,928 | 2,299,904 |
| nssv16255435 | Submitted genomic | NC_000011.9:g.(?_1 436158)_(2321134_? )dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,436,158 | 2,321,134 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255435 | GRCh37: NC_000011.9:g.(?_1436158)_(2321134_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001259591.1, VCV000980415.1 | 3 |