nsv6315366
- 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:4,526,121
- Description:GRCh37/hg19 3q27.1-28(chr3:183556940-188083060) AND Short stature
- Publication(s):Mintz et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 12773 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 12774 SVs from 121 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315366 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 183,839,152 | 188,365,272 |
| nsv6315366 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 183,556,940 | 188,083,060 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976879 | copy number loss | Multiple | Multiple | Short stature; Short stature | Pathogenic | ClinVar | RCV002280742.1, VCV001703654.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976879 | Remapped | Perfect | NC_000003.12:g.(?_ 183839152)_(188365 272_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 183,839,152 | 188,365,272 |
| nssv17976879 | Submitted genomic | NC_000003.11:g.(?_ 183556940)_(188083 060_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 183,556,940 | 188,083,060 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976879 | GRCh37: NC_000003.11:g.(?_183556940)_(188083060_?)del | copy number loss | unknown | Short stature; Short stature | Pathogenic | ClinVar | RCV002280742.1, VCV001703654.1 |