nsv4456201
- 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:1,407,182
- Description:GRCh37/hg19 11p15.2(chr11:13464883-14872063)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: 2850 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 2843 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456201 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 13,443,336 | 14,850,517 |
| nsv4456201 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 13,464,883 | 14,872,063 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15777250 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000847116.2, VCV000686408.2 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15777250 | Remapped | Perfect | NC_000011.10:g.(?_ 13443336)_(1485051 7_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 13,443,336 | 14,850,517 |
| nssv15777250 | Submitted genomic | NC_000011.9:g.(?_1 3464883)_(14872063 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 13,464,883 | 14,872,063 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15777250 | GRCh37: NC_000011.9:g.(?_13464883)_(14872063_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000847116.2, VCV000686408.2 | 4 |