nsv4768325
- 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:6,913,564
- Description:NC_000006.11:g.116734559_123648104del 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: 16055 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 16057 SVs from 119 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4768325 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 116,413,396 | 123,326,959 |
| nsv4768325 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 116,734,559 | 123,648,104 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16296931 | deletion | Multiple | Multiple | Intellectual Disability; Intellectual disability; Intellectual disability; Seizure; Seizures | Pathogenic | ClinVar | RCV001256147.2, VCV000978186.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16296931 | Remapped | Perfect | NC_000006.12:g.116 413396_123326959de l | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 116,413,396 | 123,326,959 |
| nssv16296931 | Submitted genomic | NC_000006.11:g.116 734559_123648104de l | GRCh37 (hg19) | NC_000006.11 | Chr6 | 116,734,559 | 123,648,104 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16296931 | GRCh37: NC_000006.11:g.116734559_123648104del | deletion | de novo | Intellectual Disability; Intellectual disability; Intellectual disability; Seizure; Seizures | Pathogenic | ClinVar | RCV001256147.2, VCV000978186.1 |