nsv7095335
- 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:41,451
- Description:NC_000017.10:g.(?_40688291)_(40729741_?)dup AND multiple conditions
- Publication(s):Wagner et al. 2019
- ClinVar: RCV003109258.2
- ClinVar: VCV002422709.2
- GeneReviews: NBK546574
- MONDO: 0009656
- MONDO: 0014665
- MedGen: C0086648
- MedGen: C5569050
- OMIM: 252920
- OMIM: 609701.0001
- OMIM: 609701.0002
- OMIM: 609701.0003
- OMIM: 609701.0004
- OMIM: 609701.0005
- OMIM: 609701.0006
- OMIM: 609701.0007
- OMIM: 609701.0008
- OMIM: 609701.0009
- OMIM: 609701.0010
- OMIM: 609701.0011
- OMIM: 609701.0012
- OMIM: 609701.0013
- OMIM: 609701.0014
- OMIM: 616491
- Orphanet: 447964
- PubMed: 31536183
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 218 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 218 SVs from 40 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095335 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 42,536,273 | 42,577,723 |
| nsv7095335 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 40,688,291 | 40,729,741 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792168 | duplication | Multiple | Multiple | Autosomal dominant Charcot-Marie-Tooth disease type 2V; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V; CMT2V; Charcot-Marie-Tooth disease axonal type 2V; MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B; Mucopolysaccharidosis Type III; Mucopolysaccharidosis, MPS-III-B; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV003109258.2, VCV002422709.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792168 | Remapped | Perfect | NC_000017.11:g.(?_ 42536273)_(4257772 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 42,536,273 | 42,577,723 |
| nssv18792168 | Submitted genomic | NC_000017.10:g.(?_ 40688291)_(4072974 1_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 40,688,291 | 40,729,741 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792168 | GRCh37: NC_000017.10:g.(?_40688291)_(40729741_?)dup | duplication | germline | Autosomal dominant Charcot-Marie-Tooth disease type 2V; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V; CMT2V; Charcot-Marie-Tooth disease axonal type 2V; MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B; Mucopolysaccharidosis Type III; Mucopolysaccharidosis, MPS-III-B; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV003109258.2, VCV002422709.2 |