nsv997056
- Organism: Homo sapiens
- Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:773
- Description:7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5)
- Publication(s):Klopocki et al. 2008, Riggs et al. 2011, Sun et al. 2008, Wu et al. 2009
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 143 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 143 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv997056 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 156,791,102 | 156,791,874 |
| nsv997056 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 156,583,796 | 156,584,568 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv3442654 | copy number gain | Curated | Curated | POLYDACTYLY, PREAXIAL II; PPD2; SYNDACTYLY, TYPE IV; SDTY4 | Pathogenic | ClinGen Dosage Sensitivity Map | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3442654 | Remapped | Perfect | NC_000007.14:g.(?_ 156791102)_(156791 874_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 156,791,102 | 156,791,874 |
| nssv3442654 | Submitted genomic | NC_000007.13:g.(?_ 156583796)_(156584 568_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 156,583,796 | 156,584,568 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv3442654 | GRCh37: NC_000007.13:g.(?_156583796)_(156584568_?)dup | copy number gain | POLYDACTYLY, PREAXIAL II; PPD2; SYNDACTYLY, TYPE IV; SDTY4 | Pathogenic | ClinGen Dosage Sensitivity Map | 3 |