nsv6314048
- 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:5,611,409
- Description:GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437) 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: 35183 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 32849 SVs from 131 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314048 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 101,265,821 | 106,877,229 |
| nsv6314048 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 101,732,158 | 107,285,437 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17968992 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002052456.3, VCV001526437.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17968992 | Remapped | Good | NC_000014.9:g.(?_1 01265821)_(1068772 29_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 101,265,821 | 106,877,229 |
| nssv17968992 | Submitted genomic | NC_000014.8:g.(?_1 01732158)_(1072854 37_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 101,732,158 | 107,285,437 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17968992 | GRCh37: NC_000014.8:g.(?_101732158)_(107285437_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002052456.3, VCV001526437.3 |