nsv7094797
- 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:7,778
- Description:NC_000015.9:g.(?_91478555)_(91486332_?)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: 82 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 23 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7094797 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 90,935,325 | 90,943,102 |
nsv7094797 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 91,478,555 | 91,486,332 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18787004 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003119922.2, VCV002426480.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18787004 | Remapped | Perfect | NC_000015.10:g.(?_ 90935325)_(9094310 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 90,935,325 | 90,943,102 |
nssv18787004 | Submitted genomic | NC_000015.9:g.(?_9 1478555)_(91486332 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 91,478,555 | 91,486,332 |
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 |
---|---|---|---|---|---|---|---|
nssv18787004 | GRCh37: NC_000015.9:g.(?_91478555)_(91486332_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003119922.2, VCV002426480.2 |