nsv3882517
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:137,153
- 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: 611 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 611 SVs from 68 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3882517 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 78,905,761 | 79,042,913 |
| nsv3882517 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 78,939,658 | 79,076,810 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15122630 | deletion | Multiple | Multiple | Autism Spectrum Disorder; Autism spectrum disorders; Autistic behavior | association | ClinVar | RCV000225541.1, VCV000236387.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15122630 | Submitted genomic | NC_000016.10:g.789 05761_79042913del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 78,905,761 | 79,042,913 |
| nssv15122630 | Submitted genomic | NC_000016.9:g.7893 9658_79076810del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 78,939,658 | 79,076,810 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15122630 | GRCh37: NC_000016.9:g.78939658_79076810del, GRCh38: NC_000016.10:g.78905761_79042913del | deletion | maternal | Autism Spectrum Disorder; Autism spectrum disorders; Autistic behavior | association | ClinVar | RCV000225541.1, VCV000236387.1 |