nsv4685988
- 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:11,447,595
- Description:GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1 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: 52043 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 51690 SVs from 142 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4685988 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 211,516 | 211,516 | 11,659,110 | 11,659,110 |
| nsv4685988 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 161,516 | 176,814 | 11,472,913 | 11,516,619 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16216869 | copy number loss | Multiple | Multiple | Ataxia; Cerebellar ataxia; Intellectual Disability; Intellectual disability; Intellectual disability | Pathogenic | ClinVar | RCV001251057.3, VCV000974794.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv16216869 | Remapped | Good | NC_000008.11:g.(21 1516_211516)_(1165 9110_11659110)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 211,516 | 211,516 | 11,659,110 | 11,659,110 |
| nssv16216869 | Submitted genomic | NC_000008.10:g.(16 1516_176814)_(1147 2913_11516619)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 161,516 | 176,814 | 11,472,913 | 11,516,619 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16216869 | GRCh37: NC_000008.10:g.(161516_176814)_(11472913_11516619)del | copy number loss | de novo | Ataxia; Cerebellar ataxia; Intellectual Disability; Intellectual disability; Intellectual disability | Pathogenic | ClinVar | RCV001251057.3, VCV000974794.2 | 1 |