nsv3871991
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:114,026
- 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: 1183 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1183 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 554 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3871991 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 78,239,382 | 78,353,407 |
| nsv3871991 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 78,273,279 | 78,387,304 |
| nsv3871991 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 76,830,780 | 76,944,805 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15123308 | deletion | Multiple | Multiple | Autism Spectrum Disorder; Autism spectrum disorders; Autistic behavior | association | ClinVar | RCV000225525.1, VCV000236338.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15123308 | Remapped | Perfect | NC_000016.10:g.782 39382_78353407del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,239,382 | 78,353,407 |
| nssv15123308 | Remapped | Perfect | NC_000016.9:g.7827 3279_78387304del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,273,279 | 78,387,304 |
| nssv15123308 | Submitted genomic | NC_000016.8:g.7683 0780_76944805del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 76,830,780 | 76,944,805 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15123308 | NCBI36: NC_000016.8:g.76830780_76944805del | deletion | maternal | Autism Spectrum Disorder; Autism spectrum disorders; Autistic behavior | association | ClinVar | RCV000225525.1, VCV000236338.1 |