nsv3875526
- 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:3,985,459
- Description:GRCh37/hg19 3q27.1-28(chr3:184300169-188285627) AND multiple conditions
- 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: 10868 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 10869 SVs from 115 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3875526 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 184,582,381 | 188,567,839 |
| nsv3875526 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 184,300,169 | 188,285,627 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15143214 | copy number loss | Multiple | Multiple | Cognitive impairment; Cognitive impairment; Short stature; Short stature | Pathogenic | ClinVar | RCV000626533.2, VCV000523279.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15143214 | Remapped | Perfect | NC_000003.12:g.(?_ 184582381)_(188567 839_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 184,582,381 | 188,567,839 |
| nssv15143214 | Submitted genomic | NC_000003.11:g.(?_ 184300169)_(188285 627_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 184,300,169 | 188,285,627 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15143214 | GRCh37: NC_000003.11:g.(?_184300169)_(188285627_?)del | copy number loss | unknown | Cognitive impairment; Cognitive impairment; Short stature; Short stature | Pathogenic | ClinVar | RCV000626533.2, VCV000523279.2 |