nsv6290254
- 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:8,131,894
- Description:GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 AND multiple conditions
- Publication(s):Styne et al. 2017
- ClinVar: RCV001801197.1
- ClinVar: VCV001330180.1
- HP: 0000248
- HP: 0000954
- HP: 0001513
- HP: 0001520
- HP: 0001773
- HP: 0011342
- HP: 0200055
- MONDO: 0011122
- MONDO: 0018114
- MeSH: D009765
- MedGen: C0028754
- MedGen: C0221356
- MedGen: C0424731
- MedGen: C0575802
- MedGen: C1848395
- MedGen: C1848673
- MedGen: C4012968
- Orphanet: 71529
- PubMed: 28359099
- 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: 29201 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 29012 SVs from 133 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290254 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 45,740 | 8,177,633 |
| nsv6290254 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 146,240 | 8,330,229 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956020 | copy number gain | Multiple | Multiple | Brachycephaly; Brachycephaly; Large for gestational age; Large for gestational age; Mild global developmental delay; Mild global developmental delay; Obesity; Obesity; Obesity; Obesity due to melanocortin 4 receptor deficiency; Short foot; Short foot; Single transverse palmar crease; Single transverse palmar crease; Small hand; Small hand | Pathogenic | ClinVar | RCV001801197.1, VCV001330180.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956020 | Remapped | Good | NC_000012.12:g.(?_ 45740)_(8177633_?) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 45,740 | 8,177,633 |
| nssv17956020 | Submitted genomic | NC_000012.11:g.(?_ 146240)_(8330229_? )dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 146,240 | 8,330,229 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956020 | GRCh37: NC_000012.11:g.(?_146240)_(8330229_?)dup | copy number gain | unknown | Brachycephaly; Brachycephaly; Large for gestational age; Large for gestational age; Mild global developmental delay; Mild global developmental delay; Obesity; Obesity; Obesity; Obesity due to melanocortin 4 receptor deficiency; Short foot; Short foot; Single transverse palmar crease; Single transverse palmar crease; Small hand; Small hand | Pathogenic | ClinVar | RCV001801197.1, VCV001330180.1 | 3 |