nsv4682368
- 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:45,238
- Description:NC_000002.12:g.(?_47425835)_(47471072_?)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: 281 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 281 SVs from 46 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4682368 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 47,425,835 | 47,471,072 |
nsv4682368 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 47,652,974 | 47,698,211 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16212869 | deletion | Multiple | Multiple | Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer | Pathogenic | ClinVar | RCV001033893.1, VCV000833452.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16212869 | Remapped | Perfect | NC_000002.12:g.(?_ 47425835)_(4747107 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 47,425,835 | 47,471,072 |
nssv16212869 | Submitted genomic | NC_000002.11:g.(?_ 47652974)_(4769821 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 47,652,974 | 47,698,211 |
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 |
---|---|---|---|---|---|---|---|
nssv16212869 | GRCh37: NC_000002.11:g.(?_47652974)_(47698211_?)del | deletion | germline | Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer | Pathogenic | ClinVar | RCV001033893.1, VCV000833452.1 |