nsv7094365
- 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:46,709
- Description:NC_000015.9:g.(?_32976738)_(33023446_?)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: 237 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 237 SVs from 49 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7094365 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 32,684,537 | 32,731,245 |
nsv7094365 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 32,976,738 | 33,023,446 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18790798 | duplication | Multiple | Multiple | COLORECTAL CANCER; COLORECTAL CANCER; CRC | Uncertain significance | ClinVar | RCV003116650.2, VCV002425856.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18790798 | Remapped | Perfect | NC_000015.10:g.(?_ 32684537)_(3273124 5_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 32,684,537 | 32,731,245 |
nssv18790798 | Submitted genomic | NC_000015.9:g.(?_3 2976738)_(33023446 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 32,976,738 | 33,023,446 |
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 |
---|---|---|---|---|---|---|---|
nssv18790798 | GRCh37: NC_000015.9:g.(?_32976738)_(33023446_?)dup | duplication | germline | COLORECTAL CANCER; COLORECTAL CANCER; CRC | Uncertain significance | ClinVar | RCV003116650.2, VCV002425856.2 |