nsv6315378
- 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:631,876
- Description:
GRCh37/hg19 Xp22.33(chrX:566009-1356042)x3 AND Autism - Publication(s):Miller et al. 2010, Shao 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: 5099 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 4720 SVs from 65 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315378 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 605,274 | 1,237,149 |
| nsv6315378 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 566,009 | 1,356,042 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17977067 | copy number gain | Multiple | Multiple | AUTISM; Autism; Autistic Disorder; Autistic disorder of childhood onset | Uncertain significance | ClinVar | RCV002284308.1, VCV001705934.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17977067 | Remapped | Pass | NC_000023.11:g.(60 5274_?)_(?_1237149 )dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 605,274 | 1,237,149 |
| nssv17977067 | Submitted genomic | NC_000023.10:g.(56 6009_?)_(?_1356042 )dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 566,009 | 1,356,042 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17977067 | GRCh37: NC_000023.10:g.(566009_?)_(?_1356042)dup | copy number gain | unknown | AUTISM; Autism; Autistic Disorder; Autistic disorder of childhood onset | Uncertain significance | ClinVar | RCV002284308.1, VCV001705934.1 | 3 |