nsv7097853
- 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:3,699,262
- Description:NC_000007.13:g.(?_104456677)_(108155935_?)del AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9319 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 9319 SVs from 113 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7097853 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 104,816,230 | 108,515,491 |
nsv7097853 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 104,456,677 | 108,155,935 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18792121 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003107618.2, VCV002424385.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18792121 | Remapped | Perfect | NC_000007.14:g.(?_ 104816230)_(108515 491_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 104,816,230 | 108,515,491 |
nssv18792121 | Submitted genomic | NC_000007.13:g.(?_ 104456677)_(108155 935_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 104,456,677 | 108,155,935 |
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 |
---|---|---|---|---|---|---|---|
nssv18792121 | GRCh37: NC_000007.13:g.(?_104456677)_(108155935_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV003107618.2, VCV002424385.2 |