nsv4683472
- 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:22,810
- Description:NC_000015.10:g.(?_32679746)_(32702555_?)dup AND Familial colorectal cancer
- Publication(s):No authors et al. 2020, No authors et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 163 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 163 SVs from 45 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4683472 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 32,679,746 | 32,702,555 |
| nsv4683472 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 32,971,947 | 32,994,756 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16212271 | duplication | Multiple | Multiple | COLORECTAL CANCER; COLORECTAL CANCER; CRC | Pathogenic | ClinVar | RCV001032980.4, VCV000832500.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16212271 | Remapped | Perfect | NC_000015.10:g.(?_ 32679746)_(3270255 5_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 32,679,746 | 32,702,555 |
| nssv16212271 | Submitted genomic | NC_000015.9:g.(?_3 2971947)_(32994756 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 32,971,947 | 32,994,756 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16212271 | GRCh37: NC_000015.9:g.(?_32971947)_(32994756_?)dup | duplication | germline | COLORECTAL CANCER; COLORECTAL CANCER; CRC | Pathogenic | ClinVar | RCV001032980.4, VCV000832500.4 |