nsv3886404
- 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:637,510
- Description:Single allele AND Autism spectrum disorder
- Publication(s):Daly et al. 2014, Leppa et al. 2016, Miller et al. 2010, Schaefer et al. 2013, Shaffer et al. 2005
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3213 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 3213 SVs from 97 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3886404 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 77,933,425 | 78,570,934 |
| nsv3886404 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 77,967,322 | 78,604,831 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15122614 | duplication | Multiple | Multiple | Autism Spectrum Disorder; Autism spectrum disorders; Autistic behavior | association | ClinVar | RCV000225420.1, VCV000236386.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15122614 | Remapped | Perfect | NC_000016.10:g.779 33425_78570934dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 77,933,425 | 78,570,934 |
| nssv15122614 | Submitted genomic | NC_000016.9:g.7796 7322_78604831dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 77,967,322 | 78,604,831 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15122614 | GRCh37: NC_000016.9:g.77967322_78604831dup | duplication | paternal | Autism Spectrum Disorder; Autism spectrum disorders; Autistic behavior | association | ClinVar | RCV000225420.1, VCV000236386.1 |