nsv4729188
- 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:200,505
- Description:GRCh37/hg19 11p12(chr11:40071022-40271526)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: 382 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 382 SVs from 51 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729188 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 40,049,472 | 40,249,976 |
| nsv4729188 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 40,071,022 | 40,271,526 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255185 | copy number gain | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001259097.1, VCV000979921.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255185 | Remapped | Perfect | NC_000011.10:g.(?_ 40049472)_(4024997 6_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 40,049,472 | 40,249,976 |
| nssv16255185 | Submitted genomic | NC_000011.9:g.(?_4 0071022)_(40271526 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 40,071,022 | 40,271,526 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255185 | GRCh37: NC_000011.9:g.(?_40071022)_(40271526_?)dup | copy number gain | germline | not provided | Likely benign | ClinVar | RCV001259097.1, VCV000979921.1 | 3 |