nsv3907541
- 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:1,113,745
- Description:GRCh37/hg19 11p11.2(chr11:45229091-46342834)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: 2362 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2364 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3907541 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 45,207,540 | 46,321,284 |
| nsv3907541 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 45,229,091 | 46,342,834 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15171730 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000750026.2, VCV000613390.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15171730 | Remapped | Perfect | NC_000011.10:g.(?_ 45207540)_(4632128 4_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 45,207,540 | 46,321,284 |
| nssv15171730 | Submitted genomic | NC_000011.9:g.(?_4 5229091)_(46342834 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 45,229,091 | 46,342,834 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15171730 | GRCh37: NC_000011.9:g.(?_45229091)_(46342834_?)dup | copy number gain | paternal | not provided | Uncertain significance | ClinVar | RCV000750026.2, VCV000613390.2 | 3 |