nsv4681654
- 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:119,188
- Description:NC_000001.11:g.(?_235662920)_(235782107_?)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: 329 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 330 SVs from 48 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4681654 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 235,662,920 | 235,782,107 |
| nsv4681654 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 235,826,220 | 235,945,407 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16212588 | deletion | Multiple | Multiple | CHEDIAK-HIGASHI SYNDROME; CHS; Chediak-Higashi Syndrome; Chédiak-Higashi syndrome; Chédiak-Higashi syndrome | Pathogenic | ClinVar | RCV001033562.5, VCV000833103.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16212588 | Remapped | Perfect | NC_000001.11:g.(?_ 235662920)_(235782 107_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 235,662,920 | 235,782,107 |
| nssv16212588 | Submitted genomic | NC_000001.10:g.(?_ 235826220)_(235945 407_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 235,826,220 | 235,945,407 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16212588 | GRCh37: NC_000001.10:g.(?_235826220)_(235945407_?)del | deletion | germline | CHEDIAK-HIGASHI SYNDROME; CHS; Chediak-Higashi Syndrome; Chédiak-Higashi syndrome; Chédiak-Higashi syndrome | Pathogenic | ClinVar | RCV001033562.5, VCV000833103.5 |