nsv6314198
- 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:8,750,768
- Description:GRCh37/hg19 13q14.11-14.3(chr13:44573371-53324137) 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: 21856 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 21857 SVs from 117 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314198 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 43,999,235 | 52,750,002 |
| nsv6314198 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 44,573,371 | 53,324,137 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969594 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053058.3, VCV001527772.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969594 | Remapped | Perfect | NC_000013.11:g.(?_ 43999235)_(5275000 2_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 43,999,235 | 52,750,002 |
| nssv17969594 | Submitted genomic | NC_000013.10:g.(?_ 44573371)_(5332413 7_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 44,573,371 | 53,324,137 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969594 | GRCh37: NC_000013.10:g.(?_44573371)_(53324137_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053058.3, VCV001527772.3 |