nsv5564286
- 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:664,677
- Description:NC_000010.10:g.(?_97366499)_(98031175_?)dup AND Agammaglobulinemia 4, autosomal recessive
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1375 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 1376 SVs from 67 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5564286 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 95,606,742 | 96,271,418 |
| nsv5564286 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 97,366,499 | 98,031,175 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17059236 | duplication | Multiple | Multiple | AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE; AGM4; Agammaglobulinemia 4, autosomal recessive | Uncertain significance | ClinVar | RCV001372414.3, VCV001062671.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17059236 | Remapped | Perfect | NC_000010.11:g.(?_ 95606742)_(9627141 8_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 95,606,742 | 96,271,418 |
| nssv17059236 | Submitted genomic | NC_000010.10:g.(?_ 97366499)_(9803117 5_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 97,366,499 | 98,031,175 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17059236 | GRCh37: NC_000010.10:g.(?_97366499)_(98031175_?)dup | duplication | germline | AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE; AGM4; Agammaglobulinemia 4, autosomal recessive | Uncertain significance | ClinVar | RCV001372414.3, VCV001062671.3 |