nsv3893233
- 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:134,997,713
- Description:GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)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: 359214 SVs from 154 studies. See in: genome view
Overlapping variant regions from other studies: 358900 SVs from 154 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3893233 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 70,864 | 135,068,576 |
| nsv3893233 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 70,864 | 134,938,470 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15171978 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000749874.2, VCV000613238.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15171978 | Remapped | Good | NC_000011.10:g.(?_ 70864)_(135068576_ ?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 70,864 | 135,068,576 |
| nssv15171978 | Submitted genomic | NC_000011.9:g.(?_7 0864)_(134938470_? )dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 70,864 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv15171978 | GRCh37: NC_000011.9:g.(?_70864)_(134938470_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000749874.2, VCV000613238.2 | 3 |