nsv6314016
- 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:1,571,148
- Description:GRCh37/hg19 16q23.3-24.1(chr16:84134463-85705611) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 6133 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 6133 SVs from 109 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314016 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 84,100,858 | 85,672,005 |
| nsv6314016 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 84,134,463 | 85,705,611 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969092 | copy number loss | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002052556.3, VCV001526537.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969092 | Remapped | Perfect | NC_000016.10:g.(?_ 84100858)_(8567200 5_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 84,100,858 | 85,672,005 |
| nssv17969092 | Submitted genomic | NC_000016.9:g.(?_8 4134463)_(85705611 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 84,134,463 | 85,705,611 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969092 | GRCh37: NC_000016.9:g.(?_84134463)_(85705611_?)del | copy number loss | germline | not specified | Uncertain significance | ClinVar | RCV002052556.3, VCV001526537.3 |