nsv7094183
- 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:4,136,709
- Description:NC_000011.9:g.(?_71146421)_(75283128_?)dup AND 3-methylglutaconic aciduria, type VIIB
- Publication(s):Wortmann et al. 2016
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 10010 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 10012 SVs from 105 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7094183 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 71,435,375 | 75,572,083 |
| nsv7094183 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 71,146,421 | 75,283,128 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787776 | duplication | Multiple | Multiple | 3 methylglutaconic aciduria type 7; 3-@METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA; MEGCANN; 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia; CLPB Deficiency | Uncertain significance | ClinVar | RCV003122786.2, VCV002426953.6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787776 | Remapped | Perfect | NC_000011.10:g.(?_ 71435375)_(7557208 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 71,435,375 | 75,572,083 |
| nssv18787776 | Submitted genomic | NC_000011.9:g.(?_7 1146421)_(75283128 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 71,146,421 | 75,283,128 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787776 | GRCh37: NC_000011.9:g.(?_71146421)_(75283128_?)dup | duplication | germline | 3 methylglutaconic aciduria type 7; 3-@METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA; MEGCANN; 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia; CLPB Deficiency | Uncertain significance | ClinVar | RCV003122786.2, VCV002426953.6 |