nsv4675137
- 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:1,158,930
- Description:GRCh37/hg19 11q13.2(chr11:66820585-67979510)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: 3557 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 3555 SVs from 105 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675137 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 67,053,114 | 68,212,043 |
| nsv4675137 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 66,820,585 | 67,979,510 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207103 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006414.1, VCV000815437.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207103 | Remapped | Perfect | NC_000011.10:g.(?_ 67053114)_(6821204 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 67,053,114 | 68,212,043 |
| nssv16207103 | Submitted genomic | NC_000011.9:g.(?_6 6820585)_(67979510 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 66,820,585 | 67,979,510 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207103 | GRCh37: NC_000011.9:g.(?_66820585)_(67979510_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001006414.1, VCV000815437.1 | 3 |