nsv5672560
- 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:1,590
- Description:NC_000012.11:g.(?_110032813)_(110034402_?)del AND multiple conditions
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 89 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 89 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5672560 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 109,595,008 | 109,596,597 |
| nsv5672560 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 110,032,813 | 110,034,402 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17171764 | deletion | Multiple | Multiple | HYPER-IgD SYNDROME; HIDS; Hyperimmunoglobulin D with periodic fever; Hyperimmunoglobulinemia D with periodic fever; MEVALONIC ACIDURIA; MEVA; Mevalonic aciduria; Mevalonic aciduria; POROKERATOSIS 3, MULTIPLE TYPES; POROK3; Porokeratosis, disseminated superficial actinic 1; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001389236.1, VCV001075609.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17171764 | Remapped | Perfect | NC_000012.12:g.(?_ 109595008)_(109596 597_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 109,595,008 | 109,596,597 |
| nssv17171764 | Submitted genomic | NC_000012.11:g.(?_ 110032813)_(110034 402_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 110,032,813 | 110,034,402 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17171764 | GRCh37: NC_000012.11:g.(?_110032813)_(110034402_?)del | deletion | germline | HYPER-IgD SYNDROME; HIDS; Hyperimmunoglobulin D with periodic fever; Hyperimmunoglobulinemia D with periodic fever; MEVALONIC ACIDURIA; MEVA; Mevalonic aciduria; Mevalonic aciduria; POROKERATOSIS 3, MULTIPLE TYPES; POROK3; Porokeratosis, disseminated superficial actinic 1; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001389236.1, VCV001075609.1 |