nsv3910502
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,425,748
- Description:NCBI36/hg18 3q13.2-13.31(chr3:113635324-116990586)x1 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: 7788 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 7788 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 1958 SVs from 30 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv3910502 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 112,410,526 | 112,433,787 | 115,789,049 | 115,836,273 |
nsv3910502 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 112,129,373 | 112,152,634 | 115,507,896 | 115,555,120 |
nsv3910502 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 113,612,063 | 113,635,324 | 116,990,586 | 117,037,810 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15126826 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000451415.2, VCV000400515.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15126826 | Remapped | Perfect | NC_000003.12:g.(11 2410526_112433787) _(115789049_115836 273)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 112,410,526 | 112,433,787 | 115,789,049 | 115,836,273 |
nssv15126826 | Remapped | Perfect | NC_000003.11:g.(11 2129373_112152634) _(115507896_115555 120)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 112,129,373 | 112,152,634 | 115,507,896 | 115,555,120 |
nssv15126826 | Submitted genomic | NC_000003.10:g.(11 3612063_113635324) _(116990586_117037 810)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 113,612,063 | 113,635,324 | 116,990,586 | 117,037,810 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15126826 | NCBI36: NC_000003.10:g.(113612063_113635324)_(116990586_117037810)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000451415.2, VCV000400515.2 | 1 |