nsv7148124
- 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:8,450,269
- Description:GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1 AND Exostoses, multiple, type 1
- Publication(s):Wuyts et al. 2000
- ClinVar: RCV003329505.1
- ClinVar: VCV002580301.1
- GeneReviews: NBK1235
- MONDO: 0007585
- MedGen: CN263289
- OMIM: 133700
- OMIM: 608177.0001
- OMIM: 608177.0002
- OMIM: 608177.0003
- OMIM: 608177.0004
- OMIM: 608177.0007
- OMIM: 608177.0008
- OMIM: 608177.0009
- OMIM: 608177.0010
- OMIM: 608177.0011
- OMIM: 608177.0012
- OMIM: 608177.0013
- PubMed: 20301413
- 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: 22146 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 22155 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148124 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 117,173,232 | 125,623,500 |
| nsv7148124 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 118,185,471 | 126,635,744 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18842019 | copy number loss | Multiple | Multiple | EXOSTOSES, MULTIPLE, TYPE I; Hereditary Multiple Osteochondromas; Multiple exostoses type 1; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003329505.1, VCV002580301.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18842019 | Remapped | Perfect | NC_000008.11:g.(?_ 117173232)_(125623 500_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 117,173,232 | 125,623,500 |
| nssv18842019 | Submitted genomic | NC_000008.10:g.(?_ 118185471)_(126635 744_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 118,185,471 | 126,635,744 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18842019 | GRCh37: NC_000008.10:g.(?_118185471)_(126635744_?)del | copy number loss | unknown | EXOSTOSES, MULTIPLE, TYPE I; Hereditary Multiple Osteochondromas; Multiple exostoses type 1; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003329505.1, VCV002580301.1 | 1 |