nsv4675236
- 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:1,369,442
- Description:GRCh37/hg19 11q23.3(chr11:118280670-119650105)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: 4310 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 4319 SVs from 83 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675236 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 118,409,955 | 119,779,396 |
| nsv4675236 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 118,280,670 | 119,650,105 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207121 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006451.1, VCV000815474.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207121 | Remapped | Perfect | NC_000011.10:g.(?_ 118409955)_(119779 396_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 118,409,955 | 119,779,396 |
| nssv16207121 | Submitted genomic | NC_000011.9:g.(?_1 18280670)_(1196501 05_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 118,280,670 | 119,650,105 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207121 | GRCh37: NC_000011.9:g.(?_118280670)_(119650105_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001006451.1, VCV000815474.1 | 3 |