nsv6310660
- 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:225
- Description:NC_000001.10:g.(?_100459083)_(100459307_?)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: 120 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 120 SVs from 20 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6310660 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 99,993,527 | 99,993,751 |
nsv6310660 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 100,459,083 | 100,459,307 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17968964 | deletion | Multiple | Multiple | ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS; Arthrogryposis, mental retardation, and seizures; Autism spectrum disorder-epilepsy-arthrogryposis syndrome | Pathogenic | ClinVar | RCV001982875.3, VCV001459700.3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17968964 | Remapped | Perfect | NC_000001.11:g.(?_ 99993527)_(9999375 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 99,993,527 | 99,993,751 |
nssv17968964 | Submitted genomic | NC_000001.10:g.(?_ 100459083)_(100459 307_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 100,459,083 | 100,459,307 |
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 |
---|---|---|---|---|---|---|---|
nssv17968964 | GRCh37: NC_000001.10:g.(?_100459083)_(100459307_?)del | deletion | germline | ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS; Arthrogryposis, mental retardation, and seizures; Autism spectrum disorder-epilepsy-arthrogryposis syndrome | Pathogenic | ClinVar | RCV001982875.3, VCV001459700.3 |