nsv4675892
- 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:9,863,342
- Description:GRCh37/hg19 13q32.1-33.2(chr13:96240346-106103782)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: 25226 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 25231 SVs from 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675892 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 95,588,092 | 105,451,433 |
| nsv4675892 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 96,240,346 | 106,103,782 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208373 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006589.1, VCV000815612.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208373 | Remapped | Good | NC_000013.11:g.(?_ 95588092)_(1054514 33_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 95,588,092 | 105,451,433 |
| nssv16208373 | Submitted genomic | NC_000013.10:g.(?_ 96240346)_(1061037 82_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 96,240,346 | 106,103,782 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208373 | GRCh37: NC_000013.10:g.(?_96240346)_(106103782_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006589.1, VCV000815612.1 | 1 |