nsv5673324
- 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:13,918
- Description:NC_000001.10:g.(?_235950490)_(235964407_?)dup 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: 98 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 99 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5673324 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 235,787,190 | 235,801,107 |
| nsv5673324 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 235,950,490 | 235,964,407 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17172213 | duplication | Multiple | Multiple | CHEDIAK-HIGASHI SYNDROME; CHS; Chediak-Higashi Syndrome; Chédiak-Higashi syndrome; Chédiak-Higashi syndrome | Likely pathogenic | ClinVar | RCV001378511.3, VCV001067292.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17172213 | Remapped | Perfect | NC_000001.11:g.(?_ 235787190)_(235801 107_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 235,787,190 | 235,801,107 |
| nssv17172213 | Submitted genomic | NC_000001.10:g.(?_ 235950490)_(235964 407_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 235,950,490 | 235,964,407 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17172213 | GRCh37: NC_000001.10:g.(?_235950490)_(235964407_?)dup | duplication | germline | CHEDIAK-HIGASHI SYNDROME; CHS; Chediak-Higashi Syndrome; Chédiak-Higashi syndrome; Chédiak-Higashi syndrome | Likely pathogenic | ClinVar | RCV001378511.3, VCV001067292.3 |