nsv5381130
- 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:214,456
- Description:NC_000001.10:g.(?_235613501)_(235827941_?)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: 789 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 299 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 797 SVs from 72 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381130 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 235,450,186 | 235,664,641 |
| nsv5381130 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_014040927.1 | Chr1|NW_01 4040927.1 | 93,778 | 212,205 |
| nsv5381130 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 235,613,501 | 235,827,941 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866202 | duplication | Multiple | Multiple | CHEDIAK-HIGASHI SYNDROME; CHS; Chediak-Higashi Syndrome; Chédiak-Higashi syndrome; Chédiak-Higashi syndrome | Uncertain significance | ClinVar | RCV001303753.4, VCV001006675.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866202 | Remapped | Pass | NW_014040927.1:g.( ?_93778)_(212205_? )dup | GRCh38.p12 | Second Pass | NW_014040927.1 | Chr1|NW_01 4040927.1 | 93,778 | 212,205 |
| nssv16866202 | Remapped | Good | NC_000001.11:g.(?_ 235450186)_(235664 641_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 235,450,186 | 235,664,641 |
| nssv16866202 | Submitted genomic | NC_000001.10:g.(?_ 235613501)_(235827 941_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 235,613,501 | 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 |
|---|---|---|---|---|---|---|---|
| nssv16866202 | GRCh37: NC_000001.10:g.(?_235613501)_(235827941_?)dup | duplication | germline | CHEDIAK-HIGASHI SYNDROME; CHS; Chediak-Higashi Syndrome; Chédiak-Higashi syndrome; Chédiak-Higashi syndrome | Uncertain significance | ClinVar | RCV001303753.4, VCV001006675.4 |