nsv3901091
- 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:28,068,818
- Description:GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 74639 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 74691 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3901091 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 79,998,363 | 108,067,180 |
| nsv3901091 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 80,572,498 | 108,719,528 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15149514 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000510890.2, VCV000441737.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15149514 | Remapped | Good | NC_000013.11:g.(?_ 79998363)_(1080671 80_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 79,998,363 | 108,067,180 |
| nssv15149514 | Submitted genomic | NC_000013.10:g.(?_ 80572498)_(1087195 28_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 80,572,498 | 108,719,528 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15149514 | GRCh37: NC_000013.10:g.(?_80572498)_(108719528_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000510890.2, VCV000441737.2 | 1 |