nsv4682817
- 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:76,786
- Description:NC_000011.9:g.(?_118895600)_(118972385_?)dup AND Glucose-6-phosphate transport defect
- Publication(s):Bali et al. 2006, Kishnani et al. 2014
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 396 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 222 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 398 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4682817 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 119,024,890 | 119,101,675 |
| nsv4682817 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_009646203.1 | Chr11|NW_0 09646203.1 | 46,490 | 108,875 |
| nsv4682817 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 118,895,600 | 118,972,385 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16213209 | duplication | Multiple | Multiple | GLYCOGEN STORAGE DISEASE Ib; GSD1B; Glucose-6-phosphate transport defect; Glycogen Storage Disease Type I; Glycogen storage disease due to glucose-6-phosphatase deficiency; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | Uncertain significance | ClinVar | RCV001031316.1, VCV000830701.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16213209 | Remapped | Pass | NW_009646203.1:g.( ?_46490)_(108875_? )dup | GRCh38.p12 | Second Pass | NW_009646203.1 | Chr11|NW_0 09646203.1 | 46,490 | 108,875 |
| nssv16213209 | Remapped | Perfect | NC_000011.10:g.(?_ 119024890)_(119101 675_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 119,024,890 | 119,101,675 |
| nssv16213209 | Submitted genomic | NC_000011.9:g.(?_1 18895600)_(1189723 85_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 118,895,600 | 118,972,385 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16213209 | GRCh37: NC_000011.9:g.(?_118895600)_(118972385_?)dup | duplication | germline | GLYCOGEN STORAGE DISEASE Ib; GSD1B; Glucose-6-phosphate transport defect; Glycogen Storage Disease Type I; Glycogen storage disease due to glucose-6-phosphatase deficiency; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | Uncertain significance | ClinVar | RCV001031316.1, VCV000830701.1 |