nsv5381313
- 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:2,770,312
- Description:Single allele AND multiple conditions
- Publication(s):Manickam et al. 2021, Michelson et al. 2011, Moeschler et al. 2014, Shao et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9917 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 9279 SVs from 128 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5381313 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 21,109,441 |
nsv5381313 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 18,889,490 | 21,463,730 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16865881 | deletion | Multiple | Multiple | Epilepsy; Intellectual Disability; Intellectual disability; Intellectual disability; Seizure Disorders | Pathogenic | ClinVar | RCV001293366.2, VCV000997809.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16865881 | Remapped | Pass | NC_000022.11:g.183 39130_21109441del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 21,109,441 |
nssv16865881 | Submitted genomic | NC_000022.10:g.188 89490_21463730del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,889,490 | 21,463,730 |
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 | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16865881 | GRCh37: NC_000022.10:g.18889490_21463730del | deletion | de novo | Epilepsy; Intellectual Disability; Intellectual disability; Intellectual disability; Seizure Disorders | Pathogenic | ClinVar | RCV001293366.2, VCV000997809.1 | 1 |