nsv3896651
- 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:25,581
- Description:GRCh37/hg19 11q22.3(chr11:106780118-106805698)x1 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: 310 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 310 SVs from 60 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3896651 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 106,909,392 | 106,934,972 |
nsv3896651 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 106,780,118 | 106,805,698 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15157268 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000737668.2, VCV000601032.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15157268 | Remapped | Perfect | NC_000011.10:g.(?_ 106909392)_(106934 972_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 106,909,392 | 106,934,972 |
nssv15157268 | Submitted genomic | NC_000011.9:g.(?_1 06780118)_(1068056 98_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 106,780,118 | 106,805,698 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15157268 | GRCh37: NC_000011.9:g.(?_106780118)_(106805698_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000737668.2, VCV000601032.2 | 1 |