nsv6637318
- 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:2,423,277
- Description:GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 11491 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 11682 SVs from 123 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637318 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 20,222,037 | 22,645,313 |
| nsv6637318 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 20,690,196 | 23,114,522 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330314 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002474574.1, VCV001808729.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330314 | Remapped | Good | NC_000014.9:g.(?_2 0222037)_(22645313 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,222,037 | 22,645,313 |
| nssv18330314 | Submitted genomic | NC_000014.8:g.(?_2 0690196)_(23114522 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,690,196 | 23,114,522 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330314 | GRCh37: NC_000014.8:g.(?_20690196)_(23114522_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002474574.1, VCV001808729.1 | 1 |