nsv5381164
- 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:459,677
- Description:NC_000002.11:g.(?_172291068)_(172750744_?)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: 1246 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 1246 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381164 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 171,434,558 | 171,894,234 |
| nsv5381164 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 172,291,068 | 172,750,744 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866410 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001308685.1, VCV001010962.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866410 | Remapped | Perfect | NC_000002.12:g.(?_ 171434558)_(171894 234_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 171,434,558 | 171,894,234 |
| nssv16866410 | Submitted genomic | NC_000002.11:g.(?_ 172291068)_(172750 744_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 172,291,068 | 172,750,744 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16866410 | GRCh37: NC_000002.11:g.(?_172291068)_(172750744_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV001308685.1, VCV001010962.1 |