nsv6315453
- 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:8,412,337
- Description:GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069) AND Cyclical vomiting syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 21263 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 21266 SVs from 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315453 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 25,412,121 | 33,824,457 |
| nsv6315453 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 25,451,740 | 33,864,069 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976840 | copy number loss | Multiple | Multiple | CYCLIC VOMITING SYNDROME; CVS; Cyclical vomiting syndrome | Pathogenic | ClinVar | RCV002280775.1, VCV001703687.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976840 | Remapped | Perfect | NC_000007.14:g.(?_ 25412121)_(3382445 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 25,412,121 | 33,824,457 |
| nssv17976840 | Submitted genomic | NC_000007.13:g.(?_ 25451740)_(3386406 9_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 25,451,740 | 33,864,069 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976840 | GRCh37: NC_000007.13:g.(?_25451740)_(33864069_?)del | copy number loss | unknown | CYCLIC VOMITING SYNDROME; CVS; Cyclical vomiting syndrome | Pathogenic | ClinVar | RCV002280775.1, VCV001703687.1 |