nsv4681677
- 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:93,756
- Description:NC_000004.12:g.(?_47936421)_(48030176_?)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: 394 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 394 SVs from 51 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4681677 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 47,936,421 | 48,030,176 |
| nsv4681677 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 47,938,438 | 48,032,193 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16214341 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001033026.1, VCV000832548.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16214341 | Remapped | Perfect | NC_000004.12:g.(?_ 47936421)_(4803017 6_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 47,936,421 | 48,030,176 |
| nssv16214341 | Submitted genomic | NC_000004.11:g.(?_ 47938438)_(4803219 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 47,938,438 | 48,032,193 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16214341 | GRCh37: NC_000004.11:g.(?_47938438)_(48032193_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV001033026.1, VCV000832548.1 |