nsv4682649
- 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:22,368
- Description:NC_000007.14:g.(?_5986749)_(6009116_?)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: 279 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 279 SVs from 55 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4682649 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 5,986,749 | 6,009,116 |
nsv4682649 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 6,026,380 | 6,048,747 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16214244 | deletion | Multiple | Multiple | Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer | Pathogenic | ClinVar | RCV001032843.1, VCV000832347.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16214244 | Remapped | Perfect | NC_000007.14:g.(?_ 5986749)_(6009116_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,986,749 | 6,009,116 |
nssv16214244 | Submitted genomic | NC_000007.13:g.(?_ 6026380)_(6048747_ ?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,026,380 | 6,048,747 |
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 |
---|---|---|---|---|---|---|---|
nssv16214244 | GRCh37: NC_000007.13:g.(?_6026380)_(6048747_?)del | deletion | germline | Colorectal Neoplasms, Hereditary Nonpolyposis; Hereditary nonpolyposis colon cancer | Pathogenic | ClinVar | RCV001032843.1, VCV000832347.1 |