nsv4674824
- 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:23,678,914
- Description:GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)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: 60552 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 60558 SVs from 139 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674824 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 11,032,431 | 34,711,344 |
| nsv4674824 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 11,053,978 | 34,732,891 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207087 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006387.1, VCV000815410.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207087 | Remapped | Perfect | NC_000011.10:g.(?_ 11032431)_(3471134 4_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 11,032,431 | 34,711,344 |
| nssv16207087 | Submitted genomic | NC_000011.9:g.(?_1 1053978)_(34732891 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 11,053,978 | 34,732,891 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207087 | GRCh37: NC_000011.9:g.(?_11053978)_(34732891_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001006387.1, VCV000815410.1 | 3 |