nsv3882671
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:140,957
- Description:
NC_000007.14:g.(?_146655407)_(146796363_?)del AND Autism - Publication(s):Kushima et al. 2018, Miller et al. 2010
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 719 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 719 SVs from 71 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3882671 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 146,655,407 | 146,796,363 | ||
nsv3882671 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 146,352,499 | 146,493,455 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv15145056 | deletion | Multiple | Multiple | AUTISM; Autism; Autistic Disorder; Autistic disorder of childhood onset | Likely pathogenic | ClinVar | RCV000754326.1, VCV000545342.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15145056 | Submitted genomic | NC_000007.14:g.(?_ 146655407)_(146796 363_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 146,655,407 | 146,796,363 | ||
nssv15145056 | Remapped | Perfect | NC_000007.13:g.(?_ 146352499)_(146493 455_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,352,499 | 146,493,455 |
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 |
---|---|---|---|---|---|---|---|
nssv15145056 | GRCh38: NC_000007.14:g.(?_146655407)_(146796363_?)del | deletion | germline | AUTISM; Autism; Autistic Disorder; Autistic disorder of childhood onset | Likely pathogenic | ClinVar | RCV000754326.1, VCV000545342.1 |