nsv4729112
- 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:4,599,693
- Description:GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 20526 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 20148 SVs from 129 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729112 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 230,615 | 4,830,307 |
| nsv4729112 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 230,615 | 4,851,537 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255837 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001263059.1, VCV000983191.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255837 | Remapped | Good | NC_000011.10:g.(23 0615_?)_(?_4830307 )dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 230,615 | 4,830,307 |
| nssv16255837 | Submitted genomic | NC_000011.9:g.(230 615_?)_(?_4851537) dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 230,615 | 4,851,537 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255837 | GRCh37: NC_000011.9:g.(230615_?)_(?_4851537)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV001263059.1, VCV000983191.1 | 3 |