nsv7094533
- 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:178
- Description:NC_000015.9:g.(?_40993242)_(40993419_?)del 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: 85 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 21 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7094533 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 40,701,044 | 40,701,221 |
nsv7094533 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 40,993,242 | 40,993,419 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18789494 | deletion | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003113133.2, VCV002424552.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18789494 | Remapped | Perfect | NC_000015.10:g.(?_ 40701044)_(4070122 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 40,701,044 | 40,701,221 |
nssv18789494 | Submitted genomic | NC_000015.9:g.(?_4 0993242)_(40993419 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 40,993,242 | 40,993,419 |
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 |
---|---|---|---|---|---|---|---|
nssv18789494 | GRCh37: NC_000015.9:g.(?_40993242)_(40993419_?)del | deletion | germline | not provided | Uncertain significance | ClinVar | RCV003113133.2, VCV002424552.2 |