nsv6310564
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:56
- Description:NM_000157.4(GBA):c.1265_1320del (p.Leu422fs) AND Gaucher disease perinatal lethal
- Publication(s):Pastores et al. 2000
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 166 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 171 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6310564 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 155,235,749 | 155,235,804 |
| nsv6310564 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 155,205,540 | 155,205,595 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17968638 | deletion | Multiple | Multiple | GAUCHER DISEASE, PERINATAL LETHAL; Gaucher Disease; Gaucher disease, perinatal lethal | Pathogenic | ClinVar | RCV001842231.1, VCV001342868.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17968638 | Submitted genomic | NC_000001.11:g.155 235749_155235804de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 155,235,749 | 155,235,804 |
| nssv17968638 | Submitted genomic | NC_000001.10:g.155 205540_155205595de l | GRCh37 (hg19) | NC_000001.10 | Chr1 | 155,205,540 | 155,205,595 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17968638 | GRCh37: NC_000001.10:g.155205540_155205595del, GRCh38: NC_000001.11:g.155235749_155235804del | deletion | germline | GAUCHER DISEASE, PERINATAL LETHAL; Gaucher Disease; Gaucher disease, perinatal lethal | Pathogenic | ClinVar | RCV001842231.1, VCV001342868.1 |