nsv7096256
- 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:52,383
- Description:NC_000002.11:g.(?_241656761)_(241709143_?)del AND multiple conditions
- Publication(s):Kurth et al. 2010
- ClinVar: RCV003113430.2
- ClinVar: VCV002425063.4
- GeneReviews: NBK49247
- MONDO: 0012476
- MONDO: 0013634
- MONDO: 0013656
- MedGen: C3280168
- MedGen: C5235139
- MedGen: C5393830
- OMIM: 601255.0004
- OMIM: 601255.0006
- OMIM: 601255.0007
- OMIM: 601255.0008
- OMIM: 601255.0009
- OMIM: 601255.0010
- OMIM: 601255.0011
- OMIM: 601255.0012
- OMIM: 601255.0013
- OMIM: 601255.0014
- OMIM: 601255.0015
- OMIM: 601255.0016
- OMIM: 601255.0017
- OMIM: 610357
- OMIM: 614213
- OMIM: 614255
- Orphanet: 101010
- Orphanet: 970
- PubMed: 21089229
- 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: 446 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 446 SVs from 61 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7096256 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 240,717,344 | 240,769,726 |
| nsv7096256 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 241,656,761 | 241,709,143 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18789779 | deletion | Multiple | Multiple | Autosomal spastic paraplegia type 30; Hereditary Sensory and Autonomic Neuropathy Type II; Hereditary sensory and autonomic neuropathy type 2; Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; MRD9; NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C; SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30; See individual phenotypes in OMIM allelic variants; Spastic paraplegia 30, autosomal recessive | Benign | ClinVar | RCV003113430.2, VCV002425063.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18789779 | Remapped | Perfect | NC_000002.12:g.(?_ 240717344)_(240769 726_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 240,717,344 | 240,769,726 |
| nssv18789779 | Submitted genomic | NC_000002.11:g.(?_ 241656761)_(241709 143_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 241,656,761 | 241,709,143 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18789779 | GRCh37: NC_000002.11:g.(?_241656761)_(241709143_?)del | deletion | germline | Autosomal spastic paraplegia type 30; Hereditary Sensory and Autonomic Neuropathy Type II; Hereditary sensory and autonomic neuropathy type 2; Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; MRD9; NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C; SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30; See individual phenotypes in OMIM allelic variants; Spastic paraplegia 30, autosomal recessive | Benign | ClinVar | RCV003113430.2, VCV002425063.4 |