nsv6291768
- 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:6,585,729
- Description:GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)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: 17282 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 17282 SVs from 114 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291768 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 95,405,458 | 101,991,186 |
| nsv6291768 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 95,871,795 | 102,457,523 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957518 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001827727.1, VCV001340262.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957518 | Remapped | Perfect | NC_000014.9:g.(?_9 5405458)_(10199118 6_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 95,405,458 | 101,991,186 |
| nssv17957518 | Submitted genomic | NC_000014.8:g.(?_9 5871795)_(10245752 3_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 95,871,795 | 102,457,523 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957518 | GRCh37: NC_000014.8:g.(?_95871795)_(102457523_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001827727.1, VCV001340262.1 | 1 |