nsv3902667
- 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:143,399
- Description:GRCh37/hg19 11q13.4(chr11:74806005-74949403)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: 325 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 325 SVs from 53 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3902667 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 75,094,960 | 75,238,358 |
| nsv3902667 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 74,806,005 | 74,949,403 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15159300 | copy number gain | Multiple | Multiple | not provided | Benign | ClinVar | RCV000737585.2, VCV000600949.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15159300 | Remapped | Perfect | NC_000011.10:g.(?_ 75094960)_(7523835 8_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 75,094,960 | 75,238,358 |
| nssv15159300 | Submitted genomic | NC_000011.9:g.(?_7 4806005)_(74949403 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 74,806,005 | 74,949,403 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15159300 | GRCh37: NC_000011.9:g.(?_74806005)_(74949403_?)dup | copy number gain | unknown | not provided | Benign | ClinVar | RCV000737585.2, VCV000600949.2 | 3 |