nsv4682867
- 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:1,159
- Description:NM_000528.4(MAN2B1):c.2437-300_2719del AND Deficiency of alpha-mannosidase
- Publication(s):Malm et al. 2001, Nilssen et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 77 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 77 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4682867 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 12,647,544 | 12,648,702 |
| nsv4682867 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 12,758,358 | 12,759,516 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16212934 | deletion | Multiple | Multiple | Alpha-Mannosidosis; Alpha-mannosidosis; Deficiency of alpha-mannosidase; MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA | Likely pathogenic | ClinVar | RCV001041850.1, VCV000839971.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv16212934 | Submitted genomic | NC_000019.10:g.126 47544_12648702del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 12,647,544 | 12,648,702 |
| nssv16212934 | Submitted genomic | NC_000019.9:g.1275 8358_12759516del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 12,758,358 | 12,759,516 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16212934 | GRCh37: NC_000019.9:g.12758358_12759516del, GRCh38: NC_000019.10:g.12647544_12648702del | deletion | germline | Alpha-Mannosidosis; Alpha-mannosidosis; Deficiency of alpha-mannosidase; MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA | Likely pathogenic | ClinVar | RCV001041850.1, VCV000839971.1 |