nsv6314127
- 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:1,294,920
- Description:GRCh37/hg19 16q23.3-24.1(chr16:83313106-84608026) 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: 4839 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 4839 SVs from 105 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314127 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 83,279,501 | 84,574,420 |
| nsv6314127 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 83,313,106 | 84,608,026 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969089 | copy number loss | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002052553.3, VCV001526534.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969089 | Remapped | Perfect | NC_000016.10:g.(?_ 83279501)_(8457442 0_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 83,279,501 | 84,574,420 |
| nssv17969089 | Submitted genomic | NC_000016.9:g.(?_8 3313106)_(84608026 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 83,313,106 | 84,608,026 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969089 | GRCh37: NC_000016.9:g.(?_83313106)_(84608026_?)del | copy number loss | germline | not specified | Uncertain significance | ClinVar | RCV002052553.3, VCV001526534.3 |