nsv4436290
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:complex substitution
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:870
- Description:chr5:112154359-112155228 complex variant AND Colorectal cancer, susceptibility to
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 115 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 21 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4436290 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 112,818,662 | 112,819,531 |
nsv4436290 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 112,154,359 | 112,155,228 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv15754777 | complex substitution | Multiple | Multiple | Colorectal cancer, susceptibility to | Pathogenic | ClinVar | RCV000210207.3, VCV000224516.3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|
nssv15754777 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 112,818,662 | 112,819,531 |
nssv15754777 | Submitted genomic | GRCh37 (hg19) | NC_000005.9 | Chr5 | 112,154,359 | 112,155,228 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|
nssv15754777 | complex substitution | germline | Colorectal cancer, susceptibility to | Pathogenic | ClinVar | RCV000210207.3, VCV000224516.3 |