nsv4453117
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:72,876
- Description:NC_000002.12:g.(?_47410084)_(47482959_?)del AND Hereditary nonpolyposis colorectal neoplasms
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 351 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 351 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4453117 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 47,410,084 | 47,482,959 |
| nsv4453117 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 47,637,223 | 47,710,098 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15770091 | deletion | Multiple | Multiple | Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer | Pathogenic | ClinVar | RCV000795440.1, VCV000642053.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15770091 | Submitted genomic | NC_000002.12:g.(?_ 47410084)_(4748295 9_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 47,410,084 | 47,482,959 |
| nssv15770091 | Submitted genomic | NC_000002.11:g.(?_ 47637223)_(4771009 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 47,637,223 | 47,710,098 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15770091 | GRCh37: NC_000002.11:g.(?_47637223)_(47710098_?)del, GRCh38: NC_000002.12:g.(?_47410084)_(47482959_?)del | deletion | germline | Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer | Pathogenic | ClinVar | RCV000795440.1, VCV000642053.1 |