nsv7095217
- 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:242,211
- Description:NC_000019.9:g.(?_49472545)_(49714755_?)del AND Progressive familial heart block type IB
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1155 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 1155 SVs from 74 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7095217 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 48,969,288 | 49,211,498 |
nsv7095217 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 49,472,545 | 49,714,755 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18786857 | deletion | Multiple | Multiple | Familial progressive cardiac conduction defect; PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB; PFHB1B; Progressive familial heart block type 1B | Uncertain significance | ClinVar | RCV003119771.2, VCV002426330.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18786857 | Remapped | Perfect | NC_000019.10:g.(?_ 48969288)_(4921149 8_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 48,969,288 | 49,211,498 |
nssv18786857 | Submitted genomic | NC_000019.9:g.(?_4 9472545)_(49714755 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 49,472,545 | 49,714,755 |
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 |
---|---|---|---|---|---|---|---|
nssv18786857 | GRCh37: NC_000019.9:g.(?_49472545)_(49714755_?)del | deletion | germline | Familial progressive cardiac conduction defect; PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB; PFHB1B; Progressive familial heart block type 1B | Uncertain significance | ClinVar | RCV003119771.2, VCV002426330.2 |