nsv5381620
- 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:735,969
- Description:NC_000006.11:g.(?_106756239)_(107365536_?)dup 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: 2365 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 2216 SVs from 88 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381620 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 106,308,364 | 107,044,332 |
| nsv5381620 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 106,756,239 | 107,365,536 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866179 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001301318.3, VCV001004592.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866179 | Remapped | Pass | NC_000006.12:g.(?_ 106308364)_(107044 332_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 106,308,364 | 107,044,332 |
| nssv16866179 | Submitted genomic | NC_000006.11:g.(?_ 106756239)_(107365 536_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 106,756,239 | 107,365,536 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16866179 | GRCh37: NC_000006.11:g.(?_106756239)_(107365536_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV001301318.3, VCV001004592.3 |