nsv3877952
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:26,762
- Description:NC_000002.12:g.(?_47403186)_(47429947_?)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: 219 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 219 SVs from 48 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3877952 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 47,403,186 | 47,429,947 | ||
| nsv3877952 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 47,630,325 | 47,657,086 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15130933 | deletion | Multiple | Multiple | Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer | Pathogenic | ClinVar | RCV000545560.2, VCV000455043.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15130933 | Submitted genomic | NC_000002.12:g.(?_ 47403186)_(4742994 7_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 47,403,186 | 47,429,947 | ||
| nssv15130933 | Remapped | Perfect | NC_000002.11:g.(?_ 47630325)_(4765708 6_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 47,630,325 | 47,657,086 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15130933 | GRCh38: NC_000002.12:g.(?_47403186)_(47429947_?)del | deletion | germline | Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer | Pathogenic | ClinVar | RCV000545560.2, VCV000455043.1 |