nsv6290263
- 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:7,296,925
- Description:GRCh37/hg19 8p23.3-23.1(chr8:10501-7214947)x1 AND multiple conditions
- Publication(s):Styne et al. 2017
- ClinVar: RCV001801195.1
- ClinVar: VCV001330178.1
- 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: 37815 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 37467 SVs from 140 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290263 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 60,501 | 7,357,425 |
| nsv6290263 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 10,501 | 7,214,947 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956019 | copy number loss | 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 | RCV001801195.1, VCV001330178.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956019 | Remapped | Good | NC_000008.11:g.(?_ 60501)_(7357425_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 60,501 | 7,357,425 |
| nssv17956019 | Submitted genomic | NC_000008.10:g.(?_ 10501)_(7214947_?) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 10,501 | 7,214,947 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956019 | GRCh37: NC_000008.10:g.(?_10501)_(7214947_?)del | copy number loss | 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 | RCV001801195.1, VCV001330178.1 | 1 |