nsv5564477
- 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:15,106
- Description:NC_000008.10:g.(?_48686714)_(48701819_?)dup AND Severe combined immunodeficiency due to DNA-PKcs deficiency
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 123 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 27 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5564477 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 47,774,153 | 47,789,258 |
nsv5564477 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 48,686,714 | 48,701,819 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17059312 | duplication | Multiple | Multiple | IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26; Immunodeficiency 26 with or without neurologic abnormalities; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV001362894.2, VCV001054401.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17059312 | Remapped | Perfect | NC_000008.11:g.(?_ 47774153)_(4778925 8_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 47,774,153 | 47,789,258 |
nssv17059312 | Submitted genomic | NC_000008.10:g.(?_ 48686714)_(4870181 9_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 48,686,714 | 48,701,819 |
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 |
---|---|---|---|---|---|---|---|
nssv17059312 | GRCh37: NC_000008.10:g.(?_48686714)_(48701819_?)dup | duplication | germline | IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26; Immunodeficiency 26 with or without neurologic abnormalities; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV001362894.2, VCV001054401.2 |