nsv5381046
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,195,410
- Description:
See descriptions for individual calls in download files - Publication(s):Dafsari et al. 2022
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 7547 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 7580 SVs from 101 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381046 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 44,701,347 | 47,896,756 |
| nsv5381046 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 42,281,312 | 45,423,127 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17974821 | duplication | Multiple | Multiple | Microcephaly, epilepsy, and diabetes syndrome; Microcephaly, epilepsy, and diabetes syndrome; Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome | Uncertain significance | ClinVar | RCV001923035.4, VCV001412018.5 |
| nssv17974822 | duplication | Multiple | Multiple | EPG5-Related Disorder; VICI SYNDROME; VICIS; Vici syndrome; Vici syndrome | Uncertain significance | ClinVar | RCV001923036.4, VCV001412018.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17974821 | Remapped | Good | NC_000018.10:g.(?_ 44701347)_(4789675 6_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,701,347 | 47,896,756 |
| nssv17974822 | Remapped | Good | NC_000018.10:g.(?_ 44701347)_(4789675 6_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 44,701,347 | 47,896,756 |
| nssv17974821 | Submitted genomic | NC_000018.9:g.(?_4 2281312)_(45423127 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 42,281,312 | 45,423,127 | ||
| nssv17974822 | Submitted genomic | NC_000018.9:g.(?_4 2281312)_(45423127 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 42,281,312 | 45,423,127 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17974821 | GRCh37: NC_000018.9:g.(?_42281312)_(45423127_?)dup | duplication | germline | Microcephaly, epilepsy, and diabetes syndrome; Microcephaly, epilepsy, and diabetes syndrome; Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome | Uncertain significance | ClinVar | RCV001923035.4, VCV001412018.5 |
| nssv17974822 | GRCh37: NC_000018.9:g.(?_42281312)_(45423127_?)dup | duplication | germline | EPG5-Related Disorder; VICI SYNDROME; VICIS; Vici syndrome; Vici syndrome | Uncertain significance | ClinVar | RCV001923036.4, VCV001412018.5 |