nsv7093938
- 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:28,615
- Description:NC_000011.9:g.(?_67351315)_(67379929_?)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: 218 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 218 SVs from 50 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7093938 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 67,583,844 | 67,612,458 |
nsv7093938 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 67,351,315 | 67,379,929 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18788656 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003109610.2, VCV002425686.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18788656 | Remapped | Perfect | NC_000011.10:g.(?_ 67583844)_(6761245 8_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 67,583,844 | 67,612,458 |
nssv18788656 | Submitted genomic | NC_000011.9:g.(?_6 7351315)_(67379929 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 67,351,315 | 67,379,929 |
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 |
---|---|---|---|---|---|---|---|
nssv18788656 | GRCh37: NC_000011.9:g.(?_67351315)_(67379929_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003109610.2, VCV002425686.2 |