nsv7095981
- 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:197
- Description:NC_000001.10:g.(?_235827745)_(235827941_?)del AND Chédiak-Higashi syndrome
- Publication(s):Introne et al. 2009, No authors et al. 2021, No authors et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 86 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095981 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 235,664,445 | 235,664,641 |
| nsv7095981 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 235,827,745 | 235,827,941 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18791147 | deletion | Multiple | Multiple | CHEDIAK-HIGASHI SYNDROME; CHS; Chediak-Higashi Syndrome; Chédiak-Higashi syndrome; Chédiak-Higashi syndrome | Pathogenic | ClinVar | RCV003119262.2, VCV002422313.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18791147 | Remapped | Perfect | NC_000001.11:g.(?_ 235664445)_(235664 641_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 235,664,445 | 235,664,641 |
| nssv18791147 | Submitted genomic | NC_000001.10:g.(?_ 235827745)_(235827 941_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 235,827,745 | 235,827,941 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18791147 | GRCh37: NC_000001.10:g.(?_235827745)_(235827941_?)del | deletion | germline | CHEDIAK-HIGASHI SYNDROME; CHS; Chediak-Higashi Syndrome; Chédiak-Higashi syndrome; Chédiak-Higashi syndrome | Pathogenic | ClinVar | RCV003119262.2, VCV002422313.2 |