nsv6313982
- 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:4,179,738
- Description:GRCh37/hg19 13q13.3-14.11(chr13:39428367-43608103) 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: 10714 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 10714 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313982 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 38,854,230 | 43,033,967 |
| nsv6313982 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 39,428,367 | 43,608,103 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969589 | copy number loss | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002053053.3, VCV001527767.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969589 | Remapped | Perfect | NC_000013.11:g.(?_ 38854230)_(4303396 7_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 38,854,230 | 43,033,967 |
| nssv17969589 | Submitted genomic | NC_000013.10:g.(?_ 39428367)_(4360810 3_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 39,428,367 | 43,608,103 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969589 | GRCh37: NC_000013.10:g.(?_39428367)_(43608103_?)del | copy number loss | germline | not specified | Uncertain significance | ClinVar | RCV002053053.3, VCV001527767.3 |