nsv4348018
- 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:23,269,992
- Description:Single allele 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: 67676 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 67689 SVs from 134 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4348018 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 12,689,346 | 35,959,337 |
| nsv4348018 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 12,546,855 | 35,816,855 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606126 | duplication | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV000768452.1, VCV000626288.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15606126 | Remapped | Perfect | NC_000008.11:g.126 89346_35959337dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 12,689,346 | 35,959,337 |
| nssv15606126 | Submitted genomic | NC_000008.10:g.125 46855_35816855dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 12,546,855 | 35,816,855 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15606126 | GRCh37: NC_000008.10:g.12546855_35816855dup | duplication | de novo | not provided | Likely pathogenic | ClinVar | RCV000768452.1, VCV000626288.1 |