nsv3876490
- 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:4,540
- Description:NC_000001.11:g.(?_100007014)_(100011553_?)del AND Autism spectrum disorder - epilepsy - arthrogryposis syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 121 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 121 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3876490 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 100,007,014 | 100,011,553 |
| nsv3876490 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 100,472,570 | 100,477,109 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15144332 | deletion | Multiple | Multiple | ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS; Arthrogryposis, mental retardation, and seizures; Autism spectrum disorder-epilepsy-arthrogryposis syndrome | Pathogenic | ClinVar | RCV000708013.2, VCV000583744.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15144332 | Submitted genomic | NC_000001.11:g.(?_ 100007014)_(100011 553_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 100,007,014 | 100,011,553 |
| nssv15144332 | Submitted genomic | NC_000001.10:g.(?_ 100472570)_(100477 109_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 100,472,570 | 100,477,109 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15144332 | GRCh37: NC_000001.10:g.(?_100472570)_(100477109_?)del, GRCh38: NC_000001.11:g.(?_100007014)_(100011553_?)del | deletion | germline | ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS; Arthrogryposis, mental retardation, and seizures; Autism spectrum disorder-epilepsy-arthrogryposis syndrome | Pathogenic | ClinVar | RCV000708013.2, VCV000583744.2 |