nsv4729649
- 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:1,857,203
- Description:GRCh37/hg19 11p11.2(chr11:44266593-46123796)x4 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: 4004 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 4008 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729649 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 44,245,043 | 46,102,245 |
| nsv4729649 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 44,266,593 | 46,123,796 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255182 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259092.1, VCV000979916.1 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255182 | Remapped | Perfect | NC_000011.10:g.(?_ 44245043)_(4610224 5_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 44,245,043 | 46,102,245 |
| nssv16255182 | Submitted genomic | NC_000011.9:g.(?_4 4266593)_(46123796 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 44,266,593 | 46,123,796 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255182 | GRCh37: NC_000011.9:g.(?_44266593)_(46123796_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001259092.1, VCV000979916.1 | 4 |