nsv6313916
- 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:4,735,274
- Description:GRCh37/hg19 14q13.3-21.1(chr14:36862276-41597549) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 13201 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 13202 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313916 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 36,393,071 | 41,128,344 |
| nsv6313916 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 36,862,276 | 41,597,549 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969631 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053095.3, VCV001527809.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969631 | Remapped | Perfect | NC_000014.9:g.(?_3 6393071)_(41128344 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 36,393,071 | 41,128,344 |
| nssv17969631 | Submitted genomic | NC_000014.8:g.(?_3 6862276)_(41597549 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 36,862,276 | 41,597,549 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969631 | GRCh37: NC_000014.8:g.(?_36862276)_(41597549_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053095.3, VCV001527809.3 |